organic hydroxy compound biosynthetic process - Ontology Report

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ONTOLOGY REPORT - ANNOTATIONS	{{ watchLinkText }}

Term:	organic hydroxy compound biosynthetic process	go back to main search page
Accession:	GO:1901617	browse the term
Definition:	The chemical reactions and pathways resulting in the formation of organic hydroxy compound.
Synonyms:	exact_synonym:	organic hydroxy compound anabolism; organic hydroxy compound biosynthesis; organic hydroxy compound formation; organic hydroxy compound synthesis

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Rat (253) Mouse (253) Human (270) Chinchilla (188) Bonobo (212) Dog (222) Squirrel (209) Pig (235) Green Monkey (217) Naked Mole-rat (196) All
Genes (253)

aldosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cacna1h

calcium voltage-gated channel subunit alpha1 H

involved_in

IMP
IEA
ISO

PMID:19342457
GO_REF:0000107
(PMID:19342457)

Ensembl
RGD

PMID:19342457 PMID:19342457

GO_REF:0000107, RGD:4891166

NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376

Cyp11b1

cytochrome P450, family 11, subfamily b, polypeptide 1

involved_in

IMP
IBA

PMID:19342457
PMID:21873635

UniProt
GO_Central

PMID:19342457 PMID:21873635

RGD:4891166, RGD:13792537

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

Cyp11b2

cytochrome P450, family 11, subfamily b, polypeptide 2

involved_in

IDA
ISO
IBA

(PMID:19342457), (PMID:2256920)
PMID:21873635

RGD

PMID:2256920 PMID:19342457 PMID:11832364 PMID:21873635

RGD:727991, RGD:13792537

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

Cyp11b3

cytochrome P450, family 11, subfamily b, polypeptide 3

involved_in
acts_upstream_of_or_within

ISO

(PMID:1741400), (PMID:19342457), (PMID:2256920), (PMID:23322723)
(MGI:50073|PMID:1686470), (MGI:80407|PMID:8645611)

RGD

PMID:1686470 PMID:1741400 PMID:2256920 PMID:8645611 PMID:19342457 More...

MGI:50073 MGI:80407

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

bile acid biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcd3

ATP binding cassette subfamily D member 3

involved_in

ISO
ISS

(MGI:5613029|PMID:25168382)
GO_REF:0000024

RGD
UniProt

PMID:25168382

GO_REF:0000024 MGI:5613029

NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020

Acox2

acyl-CoA oxidase 2

involved_in

ISO
IEA
ISS

(PMID:27884763)
GO_REF:0000107
GO_REF:0000024

RGD
Ensembl
UniProt

PMID:27884763

GO_REF:0000024 GO_REF:0000107

NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160

Akr1d1

aldo-keto reductase family 1, member D1

involved_in
acts_upstream_of_or_within

ISO
IEA

(PMID:7508385)
GO_REF:0000107
GO_REF:0000002

RGD
Ensembl
InterPro

PMID:7508385

GO_REF:0000002 GO_REF:0000107

NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372

Amacr

alpha-methylacyl-CoA racemase

involved_in

IDA
IEA

GO_REF:0000041

UniProt
RGD

PMID:11964182

GO_REF:0000041, RGD:704372

NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255

Baat

bile acid CoA:amino acid N-acyltransferase

involved_in

ISO

(PMID:12810727), (PMID:8034703)

RGD

PMID:8034703 PMID:12810727

NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685

Cyp27a1

cytochrome P450, family 27, subfamily a, polypeptide 1

involved_in

IEA
ISS
ISO

GO_REF:0000041
GO_REF:0000024
(PMID:11412116), (PMID:9660774)
GO_REF:0000107

UniProt
RGD
Ensembl

PMID:9660774 PMID:11412116

GO_REF:0000024 GO_REF:0000041 GO_REF:0000107

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

Cyp39a1

cytochrome P450, family 39, subfamily a, polypeptide 1

involved_in

IBA
ISO

PMID:21873635
(MGI:1859119|PMID:10748047)
(PMID:10748047)

RGD

PMID:10748047 PMID:21873635

MGI:1859119, RGD:13792537

NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775

Cyp7a1

cytochrome P450 family 7 subfamily A member 1

involved_in

TAS
IEA
IDA
ISO
IBA

GO_REF:0000041
PMID:1694852
(PMID:19965590)
PMID:21873635

UniProt
RGD

PMID:19965590 PMID:2335522 PMID:1694852 PMID:21873635

GO_REF:0000041, RGD:70535, RGD:70534, RGD:13792537

NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688

Cyp7b1

cytochrome P450 family 7 subfamily B member 1

involved_in

TAS
ISO
IEA
IBA

(MGI:1859119|PMID:10748047)
GO_REF:0000041
GO_REF:0000107
PMID:21873635

RGD
UniProt
Ensembl

PMID:10748047 PMID:12029625 PMID:21873635

GO_REF:0000041 GO_REF:0000107 MGI:1859119, RGD:1298868, RGD:13792537

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

Cyp8b1

cytochrome P450 family 8 subfamily B member 1

involved_in

ISO

(PMID:14643796)
(MGI:3588413|PMID:12393855)

RGD

PMID:12393855 PMID:14643796

MGI:3588413

NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166

Hnf1a

HNF1 homeobox A

acts_upstream_of_or_within

ISO

MGI:2384427 (MGI:1933035|PMID:11279518)

RGD

PMID:11279518

MGI:1933035

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

Hsd17b10

hydroxysteroid (17-beta) dehydrogenase 10

involved_in

ISO
IEA
ISS

(PMID:12917011)
GO_REF:0000107
GO_REF:0000024
GO_REF:0000041

RGD
Ensembl
UniProt

PMID:12917011

GO_REF:0000024 GO_REF:0000041 GO_REF:0000107

NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488

Pex2

peroxisomal biogenesis factor 2

acts_upstream_of_or_within

ISO

MGI:2180128 (MGI:3027293|PMID:14673138)

RGD

PMID:14673138

MGI:3027293

NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404

Slc27a2

solute carrier family 27 member 2

involved_in

IBA
IEA
ISO

PMID:21873635
GO_REF:0000107
(PMID:11980911)

Ensembl
RGD

PMID:11980911 PMID:21873635

GO_REF:0000107, RGD:13792537

NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208

Slc27a5

solute carrier family 27 member 5

involved_in

ISO
IBA

(PMID:11980911)
PMID:21873635

RGD

PMID:11980911 PMID:21873635

RGD:13792537

NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172

Star

steroidogenic acute regulatory protein

IDA

RGD

PMID:15382124

RGD:1600081

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

brassinosteroid biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dhcr7

7-dehydrocholesterol reductase

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

calcitriol biosynthetic process from calciol

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp27a1

cytochrome P450, family 27, subfamily a, polypeptide 1

involved_in

IBA
IEA
ISO

PMID:21873635
GO_REF:0000107
(PMID:15465040)

Ensembl
RGD

PMID:15465040 PMID:21873635

GO_REF:0000107, RGD:13792537

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

Cyp27b1

cytochrome P450, family 27, subfamily b, polypeptide 1

involved_in

ISO
IBA
IEA

(PMID:15795327), (PMID:16549446), (PMID:17023519), (PMID:22862690), (PMID:9415400)
PMID:21873635
GO_REF:0000107
(MGI:3590419|PMID:15972816)

RGD
Ensembl

PMID:9415400 PMID:15795327 PMID:15972816 PMID:16549446 PMID:17023519 More...

GO_REF:0000107 MGI:3590419, RGD:13792537

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

Cyp2r1

cytochrome P450, family 2, subfamily r, polypeptide 1

involved_in
acts_upstream_of_or_within

ISO

(PMID:15465040), (PMID:18511070)
(MGI:2677973|PMID:12867411)

RGD

PMID:12867411 PMID:15465040 PMID:18511070

MGI:2677973

NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759

Cyp3a2

cytochrome P450, family 3, subfamily a, polypeptide 2

involved_in

IEA

GO_REF:0000108

GOC

GO_REF:0000108

NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008

catecholamine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Crhr2

corticotropin releasing hormone receptor 2

IMP

RGD

PMID:17194738

RGD:5131263

NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904

Ddc

dopa decarboxylase

involved_in

TAS
IEA

GO_REF:0000043

UniProt
RGD

PMID:12047348

GO_REF:0000043, RGD:727571

NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208

Hdc

histidine decarboxylase

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341

tyrosine hydroxylase

IDA

RGD

PMID:20025246

RGD:4139888

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

cholesterol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AABR07021955.1

involved_in

IEA
IBA

GO_REF:0000041
PMID:21873635

UniProt

PMID:21873635

GO_REF:0000041, RGD:13792537

Acat2

acetyl-CoA acetyltransferase 2

involved_in

TAS

PMID:10806397

UniProt

PMID:10806397

RGD:2326086

NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821

Apoa1

apolipoprotein A1

acts_upstream_of_or_within

ISO

MGI:2180783 (MGI:2180727|PMID:8647961)

RGD

PMID:8647961

MGI:2180727

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

Ces1d

carboxylesterase 1D

involved_in

ISO

(PMID:11015575)

RGD

PMID:11015575

NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035

Cftr

CF transmembrane conductance regulator

involved_in
acts_upstream_of_or_within

IEA
ISO

GO_REF:0000107
MGI:1856709 (MGI:3709533|PMID:17085523)

Ensembl
RGD

PMID:17085523

GO_REF:0000107 MGI:3709533

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

Cyb5r3

cytochrome b5 reductase 3

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298

Dhcr24

24-dehydrocholesterol reductase

involved_in
acts_upstream_of_or_within

ISS
ISO

GO_REF:0000024
(PMID:11519011)
MGI:3027024 (MGI:2686848|PMID:14684813), (MGI:3624168|PMID:16321981), (MGI:3769949|PMID:16513830)

UniProt
RGD

PMID:11519011 PMID:14684813 PMID:16321981 PMID:16513830

GO_REF:0000024 MGI:2686848 MGI:3624168 MGI:3769949

NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137

Dhcr7

7-dehydrocholesterol reductase

involved_in

TAS
IBA
IEA
ISO
IMP
IC
IDA

PMID:21873635
GO_REF:0000041
(PMID:9465114)

UniProt
RGD

PMID:9465114 PMID:12031495 PMID:21873635 PMID:9831636 PMID:10666310 More...

GO_REF:0000041, RGD:625561, RGD:13792537, RGD:2316918, RGD:2316916, RGD:632010

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

Ebp

EBP, cholestenol delta-isomerase

involved_in

IDA
ISO
IBA
IEA
TAS

(PMID:9894009)
PMID:21873635
GO_REF:0000041

RGD
UniProt

PMID:9894009 PMID:11171067 PMID:21873635 PMID:11171067

GO_REF:0000041, RGD:628445, RGD:13792537, RGD:628445

NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826

ENSRNOG00000062441

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

Ensembl chr17:61,602,519...61,608,185

ENSRNOG00000066336

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

Ensembl chr17:61,420,961...61,551,767

Fdft1

farnesyl diphosphate farnesyl transferase 1

involved_in

TAS
IBA
IMP

PMID:21873635

RGD
GO_Central

PMID:1400448 PMID:21873635 PMID:16440058

RGD:728402, RGD:13792537, RGD:1626611

NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287

Fdps

farnesyl diphosphate synthase

TAS

RGD

PMID:1321149

RGD:728501

NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776

G6pd

glucose-6-phosphate dehydrogenase

involved_in

ISO

(PMID:12027950)

RGD

PMID:12027950

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

Hmgcr

3-hydroxy-3-methylglutaryl-CoA reductase

involved_in
acts_upstream_of_or_within

ISO
IEA

(PMID:23063590)
GO_REF:0000107
GO_REF:0000043
(MGI:2180727|PMID:8647961), (MGI:3603484|PMID:15845870), (MGI:70238|PMID:7798939)

RGD
Ensembl
UniProt

PMID:7798939 PMID:8647961 PMID:15845870 PMID:23063590

GO_REF:0000043 GO_REF:0000107 MGI:2180727 MGI:3603484 MGI:70238

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

Hmgcs1

3-hydroxy-3-methylglutaryl-CoA synthase 1

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100

Hmgcs2

3-hydroxy-3-methylglutaryl-CoA synthase 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130

Hsd17b7

hydroxysteroid (17-beta) dehydrogenase 7

involved_in
acts_upstream_of_or_within

ISO
IBA
ISS
IEA

(PMID:12829805)
(MGI:2673751|PMID:12829805)
PMID:21873635
GO_REF:0000024
GO_REF:0000107

RGD
UniProt
Ensembl

PMID:12829805 PMID:21873635

GO_REF:0000024 GO_REF:0000107 MGI:2673751, RGD:13792537

NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017

Idi1

isopentenyl-diphosphate delta isomerase 1

involved_in

TAS
IEA

GO_REF:0000043

UniProt
RGD

PMID:9228075

GO_REF:0000043, RGD:729078

NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357

Idi2

isopentenyl-diphosphate delta isomerase 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:61,331,669...61,334,285
Ensembl chr17:61,331,669...61,334,285

Insig1

insulin induced gene 1

involved_in
acts_upstream_of_or_within

IBA
ISO

PMID:21873635
MGI:1920249 (MGI:3689278|PMID:16955138)
(PMID:32322062)

RGD

PMID:16955138 PMID:32322062 PMID:21873635

MGI:3689278, RGD:13792537

NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952

Insig2

insulin induced gene 2

involved_in
acts_upstream_of_or_within

ISS
IEA
ISO
IBA

GO_REF:0000024
GO_REF:0000107
MGI:1916289 (MGI:3689278|PMID:16955138)
PMID:21873635
(PMID:32322062)

UniProt
Ensembl
RGD

PMID:16955138 PMID:32322062 PMID:21873635

GO_REF:0000024 GO_REF:0000107 MGI:3689278, RGD:13792537

NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923

Lbr

lamin B receptor

involved_in

ISO
IBA
IEA
ISS

(PMID:16784888), (PMID:27336722)
PMID:21873635
(MGI:3822946|PMID:18785926), (MGI:5308142|PMID:22140257)
GO_REF:0000041
GO_REF:0000024

RGD
UniProt

PMID:16784888 PMID:18785926 PMID:22140257 PMID:27336722 PMID:21873635

GO_REF:0000024 GO_REF:0000041 MGI:3822946 MGI:5308142, RGD:13792537

NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017

Lipa

lipase A, lysosomal acid type

acts_upstream_of_or_within
involved_in

ISO
IEA

MGI:2451080 (MGI:5702564|PMID:25147230), (MGI:6385435|PMID:29599133)
GO_REF:0000107

RGD
Ensembl

PMID:25147230 PMID:29599133

GO_REF:0000107 MGI:5702564 MGI:6385435

NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633

LOC102550988

isopentenyl-diphosphate delta-isomerase 2-like

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:61,451,920...61,457,799
Ensembl chr17:61,451,918...61,458,215

LOC102551575

isopentenyl-diphosphate delta-isomerase 2-like

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:61,504,294...61,507,015
Ensembl chr17:61,504,535...61,507,015

LOC120097764

isopentenyl-diphosphate delta-isomerase 2-like

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:61,338,622...61,349,795
Ensembl chr17:61,347,251...61,349,795

LOC120102490

insulin-induced gene 1 protein-like

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 4:67,330,399...67,331,371
Ensembl chr 4:67,330,588...67,331,346

Lss

lanosterol synthase

involved_in

IMP
IBA
IEA
IDA
ISO

PMID:21873635
GO_REF:0000107
PMID:7568116
(PMID:17186944)

Ensembl
RGD

PMID:17186944 PMID:16440058 PMID:21873635 PMID:7568116 PMID:1429550

GO_REF:0000107, RGD:1626611, RGD:13792537, RGD:728996, RGD:2316919

NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762

Msmo1

methylsterol monooxygenase 1

involved_in

IEA

GO_REF:0000041

UniProt

GO_REF:0000041

NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016

Mvd

mevalonate diphosphate decarboxylase

involved_in

NAS
IEA

GO_REF:0000041

UniProt
RGD

PMID:11767099

GO_REF:0000041, RGD:729305

NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971

Mvk

mevalonate kinase

involved_in

TAS
IEA
IBA
ISO

GO_REF:0000107
GO_REF:0000043
PMID:21873635
(PMID:1377680)

Ensembl
UniProt
RGD

PMID:1377680 PMID:2158094 PMID:21873635

GO_REF:0000043 GO_REF:0000107, RGD:728935, RGD:13792537

NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882

Npc1l1

NPC1 like intracellular cholesterol transporter 1

involved_in

ISO

(PMID:17140581)

RGD

PMID:17140581

NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113

Nsdhl

NAD(P) dependent steroid dehydrogenase-like

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142

Pmvk

phosphomevalonate kinase

involved_in

IBA
NAS
ISO

PMID:21873635
PMID:10191291
(PMID:8663599)

RGD

PMID:8663599 PMID:21873635 PMID:10191291

RGD:13792537, RGD:8553625

NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364

Prkaa1

protein kinase AMP-activated catalytic subunit alpha 1

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978

Prkaa2

protein kinase AMP-activated catalytic subunit alpha 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543

RGD1564347

similar to isopentenyl diphosphate delta-isomerase type 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:61,372,853...61,386,459
Ensembl chr17:61,373,678...61,386,454

RGD1564999

similar to isopentenyl-diphosphate delta isomerase 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:61,518,138...61,535,484
Ensembl chr17:61,519,390...61,531,603

Srebf1

sterol regulatory element binding transcription factor 1

acts_upstream_of

ISO

MGI:2177958 (MGI:1098057|PMID:9329978)

RGD

PMID:9329978

MGI:1098057

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

Tm7sf2

transmembrane 7 superfamily member 2

involved_in

IEA
IBA
ISO
IDA

GO_REF:0000041
PMID:21873635
(MGI:3822946|PMID:18785926)
PMID:16784888
(PMID:16784888)

UniProt
RGD

PMID:16784888 PMID:18785926 PMID:21873635 PMID:16784888

GO_REF:0000041 MGI:3822946, RGD:13792537, RGD:13825441

NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270

cholesterol biosynthetic process via 24,25-dihydrolanosterol

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp51

cytochrome P450, family 51

IDA

RGD

PMID:7581240

RGD:2316902

NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410

cholesterol biosynthetic process via desmosterol

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dhcr24

24-dehydrocholesterol reductase

involved_in

ISO

(PMID:11519011)

RGD

PMID:11519011

NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137

cholesterol biosynthetic process via lathosterol

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sc5d

sterol-C5-desaturase

involved_in

IDA
IBA

PMID:21873635

RGD
GO_Central

PMID:7961720 PMID:21873635

RGD:2316911, RGD:13792537

NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273

cortisol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cacna1h

calcium voltage-gated channel subunit alpha1 H

involved_in

IMP
IEA
ISO

PMID:19342457
GO_REF:0000107
(PMID:19342457)

Ensembl
RGD

PMID:19342457 PMID:19342457

GO_REF:0000107, RGD:4891166

NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376

Cyp11b1

cytochrome P450, family 11, subfamily b, polypeptide 1

involved_in

IMP

PMID:19342457

UniProt

PMID:19342457

RGD:4891166

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

Cyp11b2

cytochrome P450, family 11, subfamily b, polypeptide 2

involved_in

ISO

(PMID:19342457), (PMID:2022736), (PMID:8506298)

RGD

PMID:2022736 PMID:8506298 PMID:19342457

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

Cyp11b3

cytochrome P450, family 11, subfamily b, polypeptide 3

NOT|involved_in

ISO

(PMID:9703385)
(PMID:19342457)

RGD

PMID:9703385 PMID:19342457

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

diol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

epoxide hydrolase 1

RGD

NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235

dolichol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acat2

acetyl-CoA acetyltransferase 2

involved_in

TAS

PMID:10806397

UniProt

PMID:10806397

RGD:2326086

NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821

Nus1

NUS1 dehydrodolichyl diphosphate synthase subunit

involved_in
acts_upstream_of_or_within

IBA
ISO

PMID:21873635
(PMID:25066056)

RGD

PMID:25066056 PMID:21873635

RGD:13792537

NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561

Srd5a3

steroid 5 alpha-reductase 3

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747

dopamine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Agtr1a

angiotensin II receptor, type 1a

IMP

RGD

PMID:20097214

RGD:6903884

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

Agtr2

angiotensin II receptor, type 2

IMP

RGD

PMID:20097214

RGD:6903884

NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057

Chrna7

cholinergic receptor nicotinic alpha 7 subunit

IEP

RGD

PMID:12438507

RGD:704388

NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240

Cyp2d4

cytochrome P450, family 2, subfamily d, polypeptide 4

IDA

RGD

PMID:19818757

RGD:5143981

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

Dao

D-amino-acid oxidase

involved_in

ISO

(PMID:17303072)

RGD

PMID:17303072

NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741

Ddc

dopa decarboxylase

involved_in

IDA
IEA

GO_REF:0000041

UniProt
RGD

PMID:12703659

GO_REF:0000041, RGD:4139893

NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208

Gch1

GTP cyclohydrolase 1

involved_in

ISO

(PMID:16338639)

RGD

PMID:16338639

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

Gpr37

G protein-coupled receptor 37

acts_upstream_of_or_within

ISO

MGI:3027995 (MGI:3046856|PMID:15218106)

RGD

PMID:15218106

MGI:3046856

NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001

Nr4a2

nuclear receptor subfamily 4, group A, member 2

acts_upstream_of_or_within
involved_in

ISO
IEA

MGI:2429971 (MGI:1203924|PMID:9608532), (MGI:3767764|PMID:16782508)
GO_REF:0000107

RGD
Ensembl

PMID:9608532 PMID:16782508

GO_REF:0000107 MGI:1203924 MGI:3767764

NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877

Slc6a3

solute carrier family 6 member 3

acts_upstream_of_or_within

ISO

MGI:2386303 (MGI:2386819|PMID:9520487)

RGD

PMID:9520487

MGI:2386819

NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413

Snca

synuclein alpha

acts_upstream_of_or_within

ISO

MGI:1888382 (MGI:1352916|PMID:10707987)

RGD

PMID:10707987

MGI:1352916

NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262

Tgfb2

transforming growth factor, beta 2

involved_in

ISS
ISO

GO_REF:0000024
(MGI:3622848|PMID:16257223)

UniProt
RGD

PMID:16257223

GO_REF:0000024 MGI:3622848

NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405

tyrosine hydroxylase

involved_in

ISO
IEA

(PMID:12457228)
GO_REF:0000041

RGD
UniProt

PMID:12457228

GO_REF:0000041

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

dopamine biosynthetic process from tyrosine

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

tyrosine hydroxylase

acts_upstream_of_or_within
involved_in

IDA
ISO
IMP
IBA

MGI:1860450 (MGI:2386819|PMID:9520487), (MGI:72094|PMID:7715703), (MGI:77787|PMID:7592982)
PMID:11943812
PMID:21873635

RGD

PMID:7592982 PMID:7715703 PMID:9520487 PMID:2427363 PMID:11943812 More...

MGI:2386819 MGI:72094 MGI:77787, RGD:1580046, RGD:5129111, RGD:13792537, RGD:5130972

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

epinephrine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pnmt

phenylethanolamine-N-methyltransferase

involved_in

TAS
IEA
IDA
IC

GO_REF:0000041

UniProt
RGD

PMID:11514309 PMID:7914070 PMID:7503429

GO_REF:0000041, RGD:628457, RGD:4139902, RGD:4139901

NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556

tyrosine hydroxylase

involved_in

ISO

(PMID:12457228)

RGD

PMID:12457228

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

glycerol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Got1

glutamic-oxaloacetic transaminase 1

involved_in
acts_upstream_of_or_within

IDA
IEA
ISO

PMID:17545671
GO_REF:0000107
(MGI:3722000|PMID:17545671)

Ensembl
RGD

PMID:17545671 PMID:17545671

GO_REF:0000107 MGI:3722000, RGD:8553472

NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633

leptin

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

Pgp

phosphoglycolate phosphatase

involved_in

ISO
IEA
IDA

(PMID:26755581)
GO_REF:0000107
(MGI:5707518|PMID:26755581)

RGD
Ensembl

PMID:26755581 PMID:26755581

GO_REF:0000107 MGI:5707518, RGD:10679995

NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858

glycerol biosynthetic process from pyruvate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pck1

phosphoenolpyruvate carboxykinase 1

involved_in
acts_upstream_of_or_within

IBA
ISO
IDA

PMID:21873635
MGI:2182390 (MGI:2157262|PMID:11792850)
PMID:4186849

RGD

PMID:11792850 PMID:21873635 PMID:4186849

MGI:2157262, RGD:13792537, RGD:8553288

NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191

Pck2

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283

glycolate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Park7

Parkinsonism associated deglycase

involved_in

ISO
IBA
ISS

(PMID:22523093)
PMID:21873635
(MGI:5582151|PMID:22523093)
GO_REF:0000024

RGD
ParkinsonsUK-UCL

PMID:22523093 PMID:21873635

GO_REF:0000024 MGI:5582151, RGD:13792537

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

inositol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Impa1

inositol monophosphatase 1

involved_in

IEA

GO_REF:0000041

UniProt

GO_REF:0000041

NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:91,462,799...91,484,313

Impa2

inositol monophosphatase 2

involved_in

IEA

GO_REF:0000041

UniProt

GO_REF:0000041

NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641

Isyna1

inositol-3-phosphate synthase 1

involved_in

IEA
IBA
IDA
ISO

GO_REF:0000041
PMID:21873635
PMID:6773943
PMID:885873
PMID:23504145
PMID:19188364
UniProtKB:P11986 (PMID:23902760)

UniProt
RGD

PMID:23902760 PMID:21873635 PMID:6773943 PMID:885873 PMID:23504145 More...

GO_REF:0000041, RGD:13792537, RGD:153298956, RGD:153298936, RGD:153298945, RGD:153298950

NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979

inositol phosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Fgf2

fibroblast growth factor 2

involved_in

ISO

(PMID:20011604)

RGD

PMID:20011604

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

Ip6k1

inositol hexakisphosphate kinase 1

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 8:108,693,068...108,737,278

Ip6k2

inositol hexakisphosphate kinase 2

involved_in

IEA
IBA
ISO

GO_REF:0000002
PMID:21873635
GO_REF:0000107
MGI:5635272 (MGI:5581560|PMID:24657168)

InterPro
Ensembl
RGD

PMID:24657168 PMID:21873635

GO_REF:0000002 GO_REF:0000107 MGI:5581560, RGD:13792537

NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166

Ip6k3

inositol hexakisphosphate kinase 3

acts_upstream_of_or_within
involved_in

ISO
IBA

(PMID:11502751)
PMID:21873635

RGD

PMID:11502751 PMID:21873635

RGD:13792537

NCBI chr20:5,223,863...5,245,443
Ensembl chr20:5,224,120...5,245,428

Ipmk

inositol polyphosphate multikinase

acts_upstream_of_or_within
involved_in

ISO
IBA
IEA

MGI:3583918 (MGI:3583505|PMID:15939867)
PMID:21873635
GO_REF:0000002

RGD
InterPro

PMID:15939867 PMID:21873635

GO_REF:0000002 MGI:3583505, RGD:13792537

NCBI chr20:17,216,988...17,251,675
Ensembl chr20:17,218,037...17,251,705

Ippk

inositol-pentakisphosphate 2-kinase

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr17:15,190,191...15,235,203
Ensembl chr17:15,190,265...15,229,541

Itpka

inositol-trisphosphate 3-kinase A

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600

Itpkb

inositol-trisphosphate 3-kinase B

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr13:92,069,160...92,164,281
Ensembl chr13:92,069,216...92,162,004

Itpkc

inositol-trisphosphate 3-kinase C

involved_in

IEA
IBA

GO_REF:0000002
PMID:21873635

InterPro

PMID:21873635

GO_REF:0000002, RGD:13792537

NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779

Ppip5k1

diphosphoinositol pentakisphosphate kinase 1

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428

inositol trisphosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Plcg1

phospholipase C, gamma 1

IMP

RGD

PMID:16973916

RGD:2299886

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

Plcg2

phospholipase C, gamma 2

involved_in
acts_upstream_of_or_within

IEA
ISO

GO_REF:0000107
(MGI:85738|PMID:9013981)

Ensembl
RGD

PMID:9013981

GO_REF:0000107 MGI:85738

NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930

Pou1f1

POU class 1 homeobox 1

acts_upstream_of

ISO

MGI:1856024|MGI:1856025 (MGI:2135699|PMID:11371619)

RGD

PMID:11371619

MGI:2135699

NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801

Ptafr

platelet-activating factor receptor

acts_upstream_of_or_within

ISO

(MGI:85738|PMID:9013981)

RGD

PMID:9013981

MGI:85738

NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251

Scp2

sterol carrier protein 2

involved_in

ISO

(PMID:12641450)

RGD

PMID:12641450

NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287

lactate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gatd1

glutamine amidotransferase class 1 domain containing 1

involved_in

IEA

GO_REF:0000108

GOC

GO_REF:0000108

NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551

Ins2

insulin 2

involved_in

ISO

(PMID:8069456)

RGD

PMID:8069456

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

Park7

Parkinsonism associated deglycase

involved_in

ISO

(PMID:22523093)

RGD

PMID:22523093

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

Per2

period circadian regulator 2

involved_in

ISS
ISO

GO_REF:0000024
(MGI:5546525|PMID:23977055)

UniProt
RGD

PMID:23977055

GO_REF:0000024 MGI:5546525

NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459

lactate biosynthetic process from pyruvate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Htt

huntingtin

acts_upstream_of_or_within

ISO

(MGI:3757902|PMID:17708681)

RGD

PMID:17708681

MGI:3757902

NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070

Ldhc

lactate dehydrogenase C

involved_in
acts_upstream_of_or_within

IEA
ISO

GO_REF:0000107
(MGI:3775056|PMID:18367675)

Ensembl
RGD

PMID:18367675

GO_REF:0000107 MGI:3775056

NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378

lipoxin A4 biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Alox12

arachidonate 12-lipoxygenase, 12S type

involved_in

ISS
ISO

GO_REF:0000024
(PMID:8250832)

UniProt
RGD

PMID:8250832

GO_REF:0000024

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

Alox15

arachidonate 15-lipoxygenase

involved_in

ISS
ISO
IEA

GO_REF:0000024
(MGI:3579746|PMID:15708862)
GO_REF:0000107

UniProt
RGD
Ensembl

PMID:15708862

GO_REF:0000024 GO_REF:0000107 MGI:3579746

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

Alox15b

arachidonate 15-lipoxygenase, type B

involved_in

IEA
ISO
ISS

GO_REF:0000107
(PMID:27145229)
GO_REF:0000024

Ensembl
RGD
UniProt

PMID:27145229

GO_REF:0000024 GO_REF:0000107

NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812

lipoxin B4 biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Alox12

arachidonate 12-lipoxygenase, 12S type

involved_in

ISS
ISO

GO_REF:0000024
(PMID:8250832)

UniProt
RGD

PMID:8250832

GO_REF:0000024

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

melanin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Asip

agouti signaling protein

acts_upstream_of_or_within
involved_in

ISO
ISS
IEA

MGI:1855937 (MGI:76308|PMID:7665913)
(MGI:52685|PMID:8449404)
GO_REF:0000024
GO_REF:0000107

RGD
UniProt
Ensembl

PMID:7665913 PMID:8449404

GO_REF:0000024 GO_REF:0000107 MGI:52685 MGI:76308

NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171

Cited1

Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1

involved_in

ISS
ISO

GO_REF:0000024
(MGI:4412464|PMID:11434569)

UniProt
RGD

PMID:11434569

GO_REF:0000024 MGI:4412464

NCBI chr X:67,350,376...67,355,072
Ensembl chr X:67,350,373...67,355,162

Dct

dopachrome tautomerase

acts_upstream_of_or_within

ISO

MGI:1856379 (MGI:76308|PMID:7665913)

RGD

PMID:7665913

MGI:76308

NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836

Ddt

D-dopachrome tautomerase

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr20:12,884,216...12,886,687
Ensembl chr20:12,884,243...12,888,482

Mc1r

melanocortin 1 receptor

acts_upstream_of_or_within

ISO

MGI:1856028 (MGI:76308|PMID:7665913)

RGD

PMID:7665913

MGI:76308

NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192

Myo5a

myosin VA

acts_upstream_of_or_within

ISO

MGI:1856004 (MGI:76308|PMID:7665913)

RGD

PMID:7665913

MGI:76308

NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918

Oca2

OCA2 melanosomal transmembrane protein

acts_upstream_of_or_within
involved_in

ISO
IBA

MGI:1856114 (MGI:1202196|PMID:9548375), (MGI:76308|PMID:7665913)
PMID:21873635

RGD

PMID:7665913 PMID:9548375 PMID:21873635

MGI:1202196 MGI:76308, RGD:13792537

NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074

Pmel

premelanosome protein

acts_upstream_of_or_within

ISO

MGI:1857040 (MGI:76308|PMID:7665913)

RGD

PMID:7665913

MGI:76308

NCBI chr 7:1,138,202...1,148,735
Ensembl chr 7:1,138,586...1,148,746

Slc24a5

solute carrier family 24 member 5

acts_upstream_of

ISO

(MGI:3775882|PMID:18166528)

RGD

PMID:18166528

MGI:3775882

NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231

Trpc1

transient receptor potential cation channel, subfamily C, member 1

involved_in

IEA
ISO

GO_REF:0000107
(PMID:8126111)

Ensembl
RGD

PMID:8126111

GO_REF:0000107

NCBI chr 8:96,263,322...96,314,197
Ensembl chr 8:96,263,329...96,314,276

Tyr

tyrosinase

involved_in
acts_upstream_of_or_within

IBA
ISO

PMID:21873635
MGI:1855976|MGI:1855978 (MGI:1202196|PMID:9548375), (MGI:76308|PMID:7665913)
(PMID:8126111)

RGD

PMID:7665913 PMID:8126111 PMID:9548375 PMID:21873635

MGI:1202196 MGI:76308, RGD:13792537

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

Tyrp1

tyrosinase-related protein 1

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516

melanin biosynthetic process from tyrosine

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dct

dopachrome tautomerase

involved_in

ISO

(MGI:3690794|PMID:2169885), (MGI:6827472|PMID:33100333)

RGD

PMID:2169885 PMID:33100333

MGI:3690794 MGI:6827472

NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836

Oca2

OCA2 melanosomal transmembrane protein

involved_in

ISO

(PMID:25513726), (PMID:32966160)

RGD

PMID:25513726 PMID:32966160

NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074

Slc45a2

solute carrier family 45, member 2

involved_in

ISO

(PMID:32966160)
(MGI:7338895|PMID:35469906)

RGD

PMID:32966160 PMID:35469906

MGI:7338895

NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317

negative regulation of (R)-mevalonic acid biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mir185

microRNA 185

involved_in

ISO

RNAcentral:URS00002367FA_9606|RNAcentral:URS00004176D4_9606 (PMID:24296663)

RGD

PMID:24296663

NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795

negative regulation of aldosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bmp2

bone morphogenetic protein 2

involved_in

IEA
ISO

GO_REF:0000107
(PMID:19584291)

Ensembl
RGD

PMID:19584291

GO_REF:0000107

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

Bmp5

bone morphogenetic protein 5

involved_in

ISO

(PMID:19584291)

RGD

PMID:19584291

NCBI chr 8:76,517,164...76,639,925
Ensembl chr 8:76,517,164...76,639,925

Dkk3

dickkopf WNT signaling pathway inhibitor 3

involved_in

ISO

(PMID:16981135)

RGD

PMID:16981135

NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590

Rest

RE1-silencing transcription factor

involved_in

ISO
IEA
IMP

(PMID:19342457)
GO_REF:0000107

RGD
Ensembl

PMID:19342457 PMID:19342457

GO_REF:0000107, RGD:4891166

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

negative regulation of bile acid biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Fgf19

fibroblast growth factor 19

involved_in
acts_upstream_of_or_within

ISO

(PMID:12815072)
MGI:1928271 (MGI:5501367|PMID:23747249)

RGD

PMID:12815072 PMID:23747249

MGI:5501367

NCBI chr 1:200,056,656...200,059,944
Ensembl chr 1:200,056,644...200,060,287

Malrd1

MAM and LDL receptor class A domain containing 1

acts_upstream_of_or_within

ISO

MGI:1096383|MGI:2154956 (MGI:5501367|PMID:23747249)

RGD

PMID:23747249

MGI:5501367

NCBI chr17:78,418,819...79,131,016
Ensembl chr17:78,418,819...79,131,016

Mir33

microRNA 33

involved_in

ISO

(PMID:23536474)

RGD

PMID:23536474

NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923

Prox1

prospero homeobox 1

involved_in

ISO

(PMID:16488887)

RGD

PMID:16488887

NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183

negative regulation of calcidiol 1-monooxygenase activity

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp27b1

cytochrome P450, family 27, subfamily b, polypeptide 1

involved_in

ISO
IEA

(PMID:16549446)
GO_REF:0000107

RGD
Ensembl

PMID:16549446

GO_REF:0000107

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

Gfi1

growth factor independent 1 transcriptional repressor

involved_in

ISO
IEA

(PMID:15947108)
GO_REF:0000107

RGD
Ensembl

PMID:15947108

GO_REF:0000107

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

Nfkb1

nuclear factor kappa B subunit 1

involved_in

ISO
IEA

(PMID:15243130)
GO_REF:0000107

RGD
Ensembl

PMID:15243130

GO_REF:0000107

NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404

negative regulation of cholesterol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Apoe

apolipoprotein E

involved_in

IDA
ISO
IEA

(PMID:1917954)
GO_REF:0000107

RGD
Ensembl

PMID:1917954 PMID:9225228

GO_REF:0000107, RGD:10059686

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

Erlin1

ER lipid raft associated 1

involved_in

ISO

(PMID:24217618)

RGD

PMID:24217618

NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394

Erlin2

ER lipid raft associated 2

involved_in

ISO

(PMID:24217618)

RGD

PMID:24217618

NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671

Idi2

isopentenyl-diphosphate delta isomerase 2

acts_upstream_of_or_within

ISO

(MGI:5490819|PMID:17202134)

RGD

PMID:17202134

MGI:5490819

NCBI chr17:61,331,669...61,334,285
Ensembl chr17:61,331,669...61,334,285

Mir185

microRNA 185

acts_upstream_of

ISO

RNAcentral:URS00002367FA_9606|RNAcentral:URS00004176D4_9606 (PMID:23951060), (PMID:24296663)

RGD

PMID:23951060 PMID:24296663

NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795

Mir342

microRNA 342

acts_upstream_of

ISO

(PMID:23951060)

RGD

PMID:23951060

NCBI chr 6:127,565,269...127,565,367
Ensembl chr 6:127,565,269...127,565,367

Mir98

microRNA 98

involved_in

ISO

(PMID:30195495)

RGD

PMID:30195495

NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342

Sod1

superoxide dismutase 1

involved_in

ISS
IEA
ISO

GO_REF:0000024
GO_REF:0000107
(PMID:15473258)

UniProt
Ensembl
RGD

PMID:15473258

GO_REF:0000024 GO_REF:0000107

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

negative regulation of cortisol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bmp2

bone morphogenetic protein 2

involved_in

ISO
IEA

(PMID:19584291)
GO_REF:0000107

RGD
Ensembl

PMID:19584291

GO_REF:0000107

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

Bmp5

bone morphogenetic protein 5

involved_in

ISO

(PMID:19584291)

RGD

PMID:19584291

NCBI chr 8:76,517,164...76,639,925
Ensembl chr 8:76,517,164...76,639,925

Dkk3

dickkopf WNT signaling pathway inhibitor 3

involved_in

ISO

(PMID:16981135)

RGD

PMID:16981135

NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590

Rest

RE1-silencing transcription factor

involved_in

ISO
IEA
IMP

(PMID:19342457)
GO_REF:0000107

RGD
Ensembl

PMID:19342457 PMID:19342457

GO_REF:0000107, RGD:4891166

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

negative regulation of inositol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Isyna1

inositol-3-phosphate synthase 1

involved_in

IDA

PMID:19188364

UniProt

PMID:19188364

RGD:153298950

NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979

negative regulation of inositol phosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Plek

pleckstrin

involved_in

ISO

(PMID:7559487), (PMID:7782310)

RGD

PMID:7559487 PMID:7782310

NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131

Prkg1

protein kinase cGMP-dependent 1

IMP

RGD

PMID:7535379

RGD:7777104

NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080

negative regulation of melanin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mfsd12

major facilitator superfamily domain containing 12

involved_in

ISO

(MGI:5912387|PMID:29025994)

RGD

PMID:29025994

MGI:5912387

NCBI chr 7:8,345,171...8,354,050
Ensembl chr 7:8,347,314...8,353,988

Opn3

opsin 3

involved_in

ISO

(PMID:31097585)

RGD

PMID:31097585

NCBI chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847

Rapgef2

Rap guanine nucleotide exchange factor 2

involved_in

ISS
ISO

GO_REF:0000024
(MGI:5499726|PMID:16272156)

UniProt
RGD

PMID:16272156

GO_REF:0000024 MGI:5499726

NCBI chr 2:164,207,513...164,322,157
Ensembl chr 2:164,207,513...164,244,247

Slc24a5

solute carrier family 24 member 5

acts_upstream_of_or_within

ISO

(MGI:3775882|PMID:18166528)

RGD

PMID:18166528

MGI:3775882

NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231

Wnt5a

Wnt family member 5A

involved_in

ISO
IEA

(MGI:5619434|PMID:23569434)
GO_REF:0000107

RGD
Ensembl

PMID:23569434

GO_REF:0000107 MGI:5619434

NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234

negative regulation of testosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dkkl1

dickkopf like acrosomal protein 1

involved_in

ISO

(MGI:3839065|PMID:18818293)

RGD

PMID:18818293

MGI:3839065

NCBI chr 1:95,694,010...95,699,259
Ensembl chr 1:95,694,010...95,699,259

Wnt4

Wnt family member 4

involved_in

ISO
IEA

(PMID:12949260)
(MGI:2675528|PMID:12949260)
GO_REF:0000107

RGD
Ensembl

PMID:12949260

GO_REF:0000107 MGI:2675528

NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859

negative regulation of vitamin D biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Snai1

snail family transcriptional repressor 1

involved_in

ISO

(PMID:19502595)

RGD

PMID:19502595

NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969

Snai2

snail family transcriptional repressor 2

involved_in

ISO

(PMID:18485278), (PMID:19502595)

RGD

PMID:18485278 PMID:19502595

NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200

norepinephrine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp7a

ATPase copper transporting alpha

acts_upstream_of_or_within

ISO

MGI:1856097|MGI:1856098 (MGI:53801|PMID:4405722), (MGI:53940|PMID:4858102)

RGD

PMID:4405722 PMID:4858102

MGI:53801 MGI:53940

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

Dbh

dopamine beta-hydroxylase

involved_in
acts_upstream_of_or_within

TAS
ISO
ISS
IBA
IEA
IMP

(MGI:5787847|PMID:27148966), (MGI:72180|PMID:7715704)
MGI:1857556 (MGI:1203930|PMID:9603211), (MGI:1332340|PMID:10051631)
(PMID:27148966)
GO_REF:0000024
PMID:21873635
GO_REF:0000041

RGD
UniProt

PMID:7715704 PMID:9603211 PMID:10051631 PMID:27148966 PMID:11914591 More...

GO_REF:0000024 GO_REF:0000041 MGI:1203930 MGI:1332340 MGI:5787847 MGI:72180, RGD:727567, RGD:13792537, RGD:1625403

NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248

Epas1

endothelial PAS domain protein 1

IMP

RGD

PMID:19457096

RGD:5128877

NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228

Gata3

GATA binding protein 3

involved_in
acts_upstream_of_or_within

ISS
ISO

GO_REF:0000024
MGI:2153826 (MGI:1859081|PMID:10835639)

UniProt
RGD

PMID:10835639

GO_REF:0000024 MGI:1859081

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

Insm1

INSM transcriptional repressor 1

involved_in

ISO

(MGI:3772428|PMID:18094025)

RGD

PMID:18094025

MGI:3772428

NCBI chr 3:133,639,790...133,642,963
Ensembl chr 3:133,639,580...133,643,003

Klotho

IMP

RGD

PMID:20086041

RGD:10403068

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

Moxd1

monooxygenase, DBH-like 1

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 1:21,075,124...21,165,348
Ensembl chr 1:21,075,122...21,161,779

Moxd2

monooxygenase, DBH-like 2

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 4:69,724,693...69,733,188
Ensembl chr 4:69,724,239...69,733,299

tyrosine hydroxylase

involved_in

ISO

(PMID:12457228)

RGD

PMID:12457228

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

octopamine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dbh

dopamine beta-hydroxylase

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248

Moxd1

monooxygenase, DBH-like 1

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 1:21,075,124...21,165,348
Ensembl chr 1:21,075,122...21,161,779

Moxd2

monooxygenase, DBH-like 2

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 4:69,724,693...69,733,188
Ensembl chr 4:69,724,239...69,733,299

phytosphingosine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acer3

alkaline ceramidase 3

involved_in

IBA
ISO

PMID:21873635
(PMID:11356846), (PMID:20068046)

RGD

PMID:11356846 PMID:20068046 PMID:21873635

RGD:13792537

NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591

polyprenol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dhdds

dehydrodolichyl diphosphate synthase subunit

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454

positive regulation of aldosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bmp6

bone morphogenetic protein 6

involved_in

ISO

(PMID:16527843)

RGD

PMID:16527843

NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365

Dab2

DAB adaptor protein 2

IDA

RGD

PMID:17303656

RGD:7243836

NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476

Wnt4

Wnt family member 4

involved_in

ISO
IEA

(PMID:16981135)
GO_REF:0000107

RGD
Ensembl

PMID:16981135

GO_REF:0000107

NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859

positive regulation of bile acid biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Nr1d1

nuclear receptor subfamily 1, group D, member 1

involved_in

IEA
ISO
ISS

GO_REF:0000107
(MGI:3819720|PMID:18565334), (MGI:4360821|PMID:19721697)
GO_REF:0000024

Ensembl
RGD
UniProt

PMID:18565334 PMID:19721697

GO_REF:0000024 GO_REF:0000107 MGI:3819720 MGI:4360821

NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705

Star

steroidogenic acute regulatory protein

involved_in

ISO

(PMID:18403318)

RGD

PMID:18403318

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

Stard4

StAR-related lipid transfer domain containing 4

involved_in

ISO

(PMID:18403318)

RGD

PMID:18403318

NCBI chr18:24,814,683...24,830,024
Ensembl chr18:24,817,107...24,830,024

positive regulation of cholesterol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcg1

ATP binding cassette subfamily G member 1

involved_in

ISO

(MGI:3768186|PMID:17916878)

RGD

PMID:17916878

MGI:3768186

NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948

Abcg4

ATP binding cassette subfamily G member 4

involved_in

ISO
IEA

(MGI:3768186|PMID:17916878)
GO_REF:0000107

RGD
Ensembl

PMID:17916878

GO_REF:0000107 MGI:3768186

NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881

Cyp7a1

cytochrome P450 family 7 subfamily A member 1

involved_in

IDA

PMID:23536474

BHF-UCL

PMID:23536474

RGD:13792517

NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688

Fdps

farnesyl diphosphate synthase

IMP

RGD

PMID:18637708

RGD:2316295

NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776

Fgf1

fibroblast growth factor 1

involved_in

ISS
ISO

GO_REF:0000024
(PMID:19229075)

UniProt
RGD

PMID:19229075

GO_REF:0000024

NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357

Mir96

microRNA 96

involved_in
acts_upstream_of

ISO

RNAcentral:URS00001CC379_9606 (PMID:23823476)
(PMID:30460077)

RGD

PMID:23823476 PMID:30460077

NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516

Por

cytochrome p450 oxidoreductase

IMP

RGD

PMID:19264869

RGD:2316785

NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245

Scap

SREBF chaperone

involved_in

ISO

(PMID:32322062)

RGD

PMID:32322062

NCBI chr 8:110,306,031...110,360,677
Ensembl chr 8:110,306,031...110,360,666

Scp2

sterol carrier protein 2

IDA

RGD

PMID:2554812

RGD:9850260

NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287

Sec14l2

SEC14-like lipid binding 2

IDA

RGD

PMID:11226224

RGD:727312

NCBI chr14:78,973,805...78,998,480
Ensembl chr14:78,973,808...78,993,788

Srebf1

sterol regulatory element binding transcription factor 1

involved_in
acts_upstream_of_or_within

ISO
ISS

RGD
UniProt

PMID:8833906 PMID:9062341 PMID:9329978 PMID:12177166 PMID:16046411 More...

GO_REF:0000024 MGI:1098057 MGI:3603730 MGI:3623165 MGI:83216

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

Srebf2

sterol regulatory element binding transcription factor 2

involved_in

ISS
ISO
IEA

GO_REF:0000024
(PMID:12177166)
GO_REF:0000107
(PMID:32322062)

UniProt
RGD
Ensembl

PMID:12177166 PMID:32322062

GO_REF:0000024 GO_REF:0000107

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

positive regulation of cortisol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Wnt4

Wnt family member 4

involved_in

IEA
ISO

GO_REF:0000107
(PMID:16981135)

Ensembl
RGD

PMID:16981135

GO_REF:0000107

NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859

positive regulation of dopamine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Epas1

endothelial PAS domain protein 1

IMP

RGD

PMID:19457096

RGD:5128877

NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228

Park7

Parkinsonism associated deglycase

involved_in

ISS
ISO

GO_REF:0000024
(PMID:19703902)

ParkinsonsUK-UCL
RGD

PMID:19703902

GO_REF:0000024

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

Vps35

VPS35 retromer complex component

involved_in

ISO

(MGI:5694519|PMID:26203154)

RGD

PMID:26203154

MGI:5694519

NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618

positive regulation of inositol phosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adcyap1r1

ADCYAP receptor type I

IDA

RGD

PMID:8943280

RGD:2315982

NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700

Avpr1b

arginine vasopressin receptor 1B

involved_in

ISO
IEA

(PMID:9322919)
GO_REF:0000107

RGD
Ensembl

PMID:9322919

GO_REF:0000107

NCBI chr13:43,046,960...43,057,110
Ensembl chr13:43,046,267...43,057,792

Cd244

CD244 molecule

involved_in

ISO

(PMID:8376943)

RGD

PMID:8376943

NCBI chr13:84,018,887...84,036,612
Ensembl chr13:84,020,095...84,036,100

Mas1

MAS1 proto-oncogene, G protein-coupled receptor

IDA

RGD

PMID:1332507

RGD:2316794

NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709

Ntsr1

neurotensin receptor 1

IMP

RGD

PMID:11861328

RGD:9743897

NCBI chr 3:167,606,215...167,656,377
Ensembl chr 3:167,606,215...167,656,377

Ptafr

platelet-activating factor receptor

IDA

RGD

PMID:8798508

RGD:9999203

NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251

Pth

parathyroid hormone

involved_in

ISO

(PMID:11604398)

RGD

PMID:11604398

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

Pth1r

parathyroid hormone 1 receptor

involved_in

IDA

PMID:19608645

BHF-UCL

PMID:19608645

RGD:8553376

NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729

Snca

synuclein alpha

involved_in

ISO
IEA

(PMID:15641770)
GO_REF:0000107

RGD
Ensembl

PMID:15641770

GO_REF:0000107

NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262

positive regulation of inositol trisphosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gper1

G protein-coupled estrogen receptor 1

involved_in

ISS
IEA
ISO

GO_REF:0000024
GO_REF:0000107
(PMID:15705806)

UniProt
Ensembl
RGD

PMID:15705806

GO_REF:0000024 GO_REF:0000107

NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889

Lhcgr

luteinizing hormone/choriogonadotropin receptor

involved_in

IEA
ISO

GO_REF:0000107
(MGI:5318037|PMID:10493819)

Ensembl
RGD

PMID:10493819

GO_REF:0000107 MGI:5318037

NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521

Myh9

myosin, heavy chain 9

IMP

RGD

PMID:20068007

RGD:6902910

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

P2ry1

purinergic receptor P2Y1

involved_in

IDA

PMID:11390975

BHF-UCL

PMID:11390975

RGD:8553380

NCBI chr 2:145,241,975...145,248,186
Ensembl chr 2:145,241,849...145,248,457

P2ry6

pyrimidinergic receptor P2Y6

involved_in

ISO

(PMID:8670200)

RGD

PMID:8670200

NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808

Plcd1

phospholipase C, delta 1

IMP

RGD

PMID:16709602

RGD:2300424

NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186

Pou1f1

POU class 1 homeobox 1

acts_upstream_of_or_within

ISO

MGI:1856024|MGI:1856025 (MGI:2135699|PMID:11371619)

RGD

PMID:11371619

MGI:2135699

NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801

positive regulation of melanin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Appl1

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

involved_in

ISO

(PMID:21291857)

RGD

PMID:21291857

NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692

Asip

agouti signaling protein

involved_in

IBA
ISO
IEA

PMID:21873635
UniProtKB:P07147|UniProtKB:Q60696 (MGI:5294257|PMID:21949658)
GO_REF:0000107

RGD
Ensembl

PMID:21949658 PMID:21873635

GO_REF:0000107 MGI:5294257, RGD:13792537

NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171

Atp7a

ATPase copper transporting alpha

involved_in

ISS
ISO

GO_REF:0000024
(PMID:11092760)

UniProt
RGD

PMID:11092760

GO_REF:0000024

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

Cdh3

cadherin 3

involved_in

ISO

(PMID:23334344)

RGD

PMID:23334344

NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084

Gipc1

GIPC PDZ domain containing family, member 1

involved_in

ISS
IEA
ISO

GO_REF:0000024
GO_REF:0000107
(PMID:21291857)

UniProt
Ensembl
RGD

PMID:21291857

GO_REF:0000024 GO_REF:0000107

NCBI chr19:24,474,291...24,487,083
Ensembl chr19:24,453,123...24,486,997

Opn3

opsin 3

involved_in

ISO

(PMID:28842328)

RGD

PMID:28842328

NCBI chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847

Pmel

premelanosome protein

involved_in

ISO

(MGI:5294257|PMID:21949658)

RGD

PMID:21949658

MGI:5294257

NCBI chr 7:1,138,202...1,148,735
Ensembl chr 7:1,138,586...1,148,746

Rab38

RAB38, member RAS oncogene family

IMP

RGD

PMID:17043139

RGD:152025192

NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924

Tyrp1

tyrosinase-related protein 1

involved_in

ISO

(PMID:21996312)
UniProtKB:Q03288|UniProtKB:Q60696 (MGI:5294257|PMID:21949658)

RGD

PMID:21949658 PMID:21996312

MGI:5294257

NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516

positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Hand2

heart and neural crest derivatives expressed 2

involved_in

IEA
ISO

GO_REF:0000107
(MGI:4413411|PMID:19008477)

Ensembl
RGD

PMID:19008477

GO_REF:0000107 MGI:4413411

NCBI chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891

positive regulation of vitamin D biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ifng

interferon gamma

involved_in

ISO

(PMID:9282826)

RGD

PMID:9282826

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

Tnf

tumor necrosis factor

involved_in

ISO

(PMID:1690216)

RGD

PMID:1690216

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

protein deglycation, glyoxal removal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Park7

Parkinsonism associated deglycase

involved_in

ISO

(PMID:25416785)

RGD

PMID:25416785

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

protein deglycation, methylglyoxal removal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Park7

Parkinsonism associated deglycase

NOT|involved_in

ISS
ISO

GO_REF:0000024
(PMID:27903648)
(PMID:25416785), (PMID:30150385)

UniProt
RGD

PMID:25416785 PMID:27903648 PMID:30150385

GO_REF:0000024

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

pyridoxal 5'-phosphate salvage

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pdxk

pyridoxal kinase

involved_in

IBA
IEA

PMID:21873635
GO_REF:0000002

InterPro

PMID:21873635

GO_REF:0000002, RGD:13792537

NCBI chr20:10,210,393...10,231,937
Ensembl chr20:10,210,289...10,232,110

RGD1566085

similar to pyridoxal (pyridoxine, vitamin B6) kinase

involved_in

IEA

GO_REF:0000002

InterPro

GO_REF:0000002

NCBI chr20:10,162,934...10,192,610
Ensembl chr20:10,164,099...10,192,739

pyridoxal phosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

pyridoxal kinase

RGD

NCBI chr20:10,210,393...10,231,937
Ensembl chr20:10,210,289...10,232,110

Pnpo

pyridoxamine 5'-phosphate oxidase

involved_in

ISO
IBA

(PMID:12824491)
PMID:21873635

RGD

PMID:12824491 PMID:21873635

RGD:13792537

NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871

pyridoxine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pnpo

pyridoxamine 5'-phosphate oxidase

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871

regulation of aldosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Clcn2

chloride voltage-gated channel 2

involved_in

ISO
ISS

(PMID:29403011)
GO_REF:0000024

RGD
UniProt

PMID:29403011

GO_REF:0000024

NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657

regulation of bile acid biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ces1d

carboxylesterase 1D

involved_in

ISO

(PMID:18599737)

RGD

PMID:18599737

NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035

Cyp7a1

cytochrome P450 family 7 subfamily A member 1

involved_in

ISO
IDA

(PMID:19965590)
PMID:1694852

RGD

PMID:19965590 PMID:1694852

RGD:70534

NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688

Fgfr4

fibroblast growth factor receptor 4

involved_in

IBA
IEA
ISO
ISS

PMID:21873635
GO_REF:0000107
(MGI:1858658|PMID:10809780)
GO_REF:0000024
(PMID:17623664), (PMID:20683963)

Ensembl
RGD
UniProt

PMID:10809780 PMID:17623664 PMID:20683963 PMID:21873635

GO_REF:0000024 GO_REF:0000107 MGI:1858658, RGD:13792537

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

Sirt1

sirtuin 1

involved_in

ISO
IEA

(MGI:5014028|PMID:20375098)
GO_REF:0000107

RGD
Ensembl

PMID:20375098

GO_REF:0000107 MGI:5014028

NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260

regulation of cholesterol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abca2

ATP binding cassette subfamily A member 2

NOT|involved_in

ISO

(PMID:21810484)

RGD

PMID:21810484

NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537

Apob

apolipoprotein B

acts_upstream_of_or_within
involved_in

ISO
IEA

MGI:2183298 (MGI:3652707|PMID:16455790)
GO_REF:0000107

RGD
Ensembl

PMID:16455790

GO_REF:0000107 MGI:3652707

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

Aqp8

aquaporin 8

involved_in

IEA
ISO
ISS

GO_REF:0000107
(PMID:30579780)
GO_REF:0000024

Ensembl
RGD
UniProt

PMID:30579780

GO_REF:0000024 GO_REF:0000107

NCBI chr 1:177,993,313...177,999,158
Ensembl chr 1:177,993,305...177,999,158

Cyp51

cytochrome P450, family 51

TAS

RGD

PMID:7665087

RGD:1298863

NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410

Dhcr7

7-dehydrocholesterol reductase

IDA

RGD

PMID:10329655

RGD:632010

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

Erlin1

ER lipid raft associated 1

involved_in

ISO

(PMID:24217618)

RGD

PMID:24217618

NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394

Erlin2

ER lipid raft associated 2

involved_in

ISO

(PMID:24217618)

RGD

PMID:24217618

NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671

Lpcat3

lysophosphatidylcholine acyltransferase 3

involved_in

ISS
ISO

GO_REF:0000024
(MGI:6278041|PMID:29395055)

UniProt
RGD

PMID:29395055

GO_REF:0000024 MGI:6278041

NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880

mevalonate kinase

RGD

NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882

Pex2

peroxisomal biogenesis factor 2

acts_upstream_of_or_within

ISO

MGI:2180128 (MGI:3027293|PMID:14673138)

RGD

PMID:14673138

MGI:3027293

NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404

Scap

SREBF chaperone

acts_upstream_of_or_within
involved_in

ISO
IBA

MGI:2148743|MGI:2180899 (MGI:3770209|PMID:16054043)
PMID:21873635

RGD

PMID:16054043 PMID:21873635

MGI:3770209, RGD:13792537

NCBI chr 8:110,306,031...110,360,677
Ensembl chr 8:110,306,031...110,360,666

regulation of cortisol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dgkq

diacylglycerol kinase, theta

involved_in

ISO

(PMID:24369117)

RGD

PMID:24369117

NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131

H6pd

hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)

involved_in

ISO

(PMID:18628520), (PMID:23132696)
(MGI:3623644|PMID:16356929)

RGD

PMID:16356929 PMID:18628520 PMID:23132696

MGI:3623644

NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171

regulation of dopamine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aldh2

aldehyde dehydrogenase 2 family member

involved_in

ISS
ISO

GO_REF:0000024
(MGI:6827320|PMID:26711020)

UniProt
RGD

PMID:26711020

GO_REF:0000024 MGI:6827320

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

regulation of inositol trisphosphate biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ptk2b

protein tyrosine kinase 2 beta

involved_in

ISS
ISO

GO_REF:0000024
(MGI:3583523|PMID:12960403)

UniProt
RGD

PMID:12960403

GO_REF:0000024 MGI:3583523

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

regulation of melanin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ctns

cystinosin, lysosomal cystine transporter

involved_in

ISO

(PMID:22649030)

RGD

PMID:22649030

NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120

Mfsd12

major facilitator superfamily domain containing 12

involved_in

ISO

(PMID:33208952)
(MGI:6492453|PMID:33208952)
(PMID:31117290)

RGD

PMID:31117290 PMID:33208952

MGI:6492453

NCBI chr 7:8,345,171...8,354,050
Ensembl chr 7:8,347,314...8,353,988

Slc7a11

solute carrier family 7 member 11

acts_upstream_of_or_within

ISO

MGI:1857061 (MGI:3588610|PMID:16037214)

RGD

PMID:16037214

MGI:3588610

NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536

regulation of serotonin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aldh2

aldehyde dehydrogenase 2 family member

involved_in

ISS
ISO

GO_REF:0000024
(MGI:6827320|PMID:26711020)

UniProt
RGD

PMID:26711020

GO_REF:0000024 MGI:6827320

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

regulation of testosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Akr1c3

aldo-keto reductase family 1, member C3

involved_in

ISO

(PMID:19336506)

RGD

PMID:19336506

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

Prkg1

protein kinase cGMP-dependent 1

IMP

RGD

PMID:22429315

RGD:7775068

NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080

serotonin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ddc

dopa decarboxylase

involved_in

IDA
IBA

PMID:21873635

RGD
GO_Central

PMID:10027744 PMID:21873635

RGD:5129182, RGD:13792537

NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208

Tph1

tryptophan hydroxylase 1

involved_in

ISS
ISO

GO_REF:0000024
(MGI:2683993|PMID:14697203)

UniProt
RGD

PMID:14697203

GO_REF:0000024 MGI:2683993

NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344

Tph2

tryptophan hydroxylase 2

involved_in

IEA

GO_REF:0000041

UniProt

GO_REF:0000041

NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424

serotonin biosynthetic process from tryptophan

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp2d4

cytochrome P450, family 2, subfamily d, polypeptide 4

IDA

RGD

PMID:23098818

RGD:11353778

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

Tph1

tryptophan hydroxylase 1

TAS

RGD

PMID:12153488

RGD:625621

NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344

sorbitol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Akr1b1

aldo-keto reductase family 1 member B1

IMP

RGD

PMID:6690344 PMID:21376710

RGD:1626096, RGD:8548687

NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157

sphinganine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sptlc1

serine palmitoyltransferase, long chain base subunit 1

acts_upstream_of_or_within

ISO

MGI:3815115 (MGI:3846467|PMID:19416652)

RGD

PMID:19416652

MGI:3846467

NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295

Sptlc2

serine palmitoyltransferase, long chain base subunit 2

acts_upstream_of_or_within
involved_in

ISO
IEA

(MGI:1098386|PMID:9363775)
GO_REF:0000107

RGD
Ensembl

PMID:9363775

GO_REF:0000107 MGI:1098386

NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542

sphingosine biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abca2

ATP binding cassette subfamily A member 2

acts_upstream_of_positive_effect
involved_in

ISO
IEA

(PMID:26510981)
GO_REF:0000107

RGD
Ensembl

PMID:26510981

GO_REF:0000107

NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537

Acer1

alkaline ceramidase 1

involved_in

ISO
IBA

(PMID:17713573), (PMID:20207939), (PMID:20628055)
PMID:21873635
(MGI:5800647|PMID:27126290), (MGI:6107252|PMID:29056331)

RGD

PMID:17713573 PMID:20207939 PMID:20628055 PMID:27126290 PMID:29056331 More...

MGI:5800647 MGI:6107252, RGD:13792537

NCBI chr 9:1,792,790...1,824,434
Ensembl chr 9:1,793,139...1,824,434

Acer2

alkaline ceramidase 2

involved_in

ISO
IBA

(PMID:16940153), (PMID:20089856), (PMID:20207939), (PMID:20628055)
PMID:21873635
(MGI:6116621|PMID:29401619)

RGD

PMID:16940153 PMID:20089856 PMID:20207939 PMID:20628055 PMID:29401619 More...

MGI:6116621, RGD:13792537

NCBI chr 5:101,391,830...101,442,615
Ensembl chr 5:101,391,885...101,442,614

Acer3

alkaline ceramidase 3

involved_in

ISO

(PMID:20068046), (PMID:20207939), (PMID:26792856)
(MGI:5749603|PMID:26474409)

RGD

PMID:20068046 PMID:20207939 PMID:26474409 PMID:26792856

MGI:5749603

NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591

Asah1

N-acylsphingosine amidohydrolase 1

involved_in

ISS
ISO
IEA

GO_REF:0000024
(MGI:1267186|PMID:9653654)
(PMID:10610716), (PMID:12815059)
GO_REF:0000107

UniProt
RGD
Ensembl

PMID:9653654 PMID:10610716 PMID:12815059

GO_REF:0000024 GO_REF:0000107 MGI:1267186

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

Asah2

N-acylsphingosine amidohydrolase 2

involved_in

IDA
ISO
IBA

PMID:10488143
PMID:15123644
(MGI:3608219|PMID:16126722), (MGI:3640407|PMID:16380386), (MGI:6275120|PMID:10652340)
PMID:15217782
PMID:21873635
(PMID:30154232)

RGD

PMID:10652340 PMID:16126722 PMID:16380386 PMID:30154232 PMID:10488143 More...

MGI:3608219 MGI:3640407 MGI:6275120, RGD:13838800, RGD:13838793, RGD:13838794, RGD:13792537

NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162

ENSRNOG00000069695

involved_in

IEA

GO_REF:0000117

UniProt

GO_REF:0000117

Ensembl chr14:25,729,638...25,730,194

Gba

glucosylceramidase beta

involved_in

ISO

(PMID:19279011)

RGD

PMID:19279011

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

Sphk1

sphingosine kinase 1

involved_in

ISO
IEA
IBA

UniProtKB:Q9NRA0 (PMID:23106337)
GO_REF:0000107
PMID:21873635

RGD
Ensembl

PMID:23106337 PMID:21873635

GO_REF:0000107, RGD:13792537

NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240

Sphk2

sphingosine kinase 2

involved_in

ISO
IBA

UniProtKB:Q9NYA1 (PMID:23106337)
PMID:21873635

RGD

PMID:23106337 PMID:21873635

RGD:13792537

NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391

Sptlc1

serine palmitoyltransferase, long chain base subunit 1

acts_upstream_of_or_within
involved_in

ISO
IBA

MGI:3815115 (MGI:3814228|PMID:16216550)
PMID:21873635
(PMID:19416851), (PMID:33558761)

RGD

PMID:16216550 PMID:19416851 PMID:33558761 PMID:21873635

MGI:3814228, RGD:13792537

NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295

Sptlc2

serine palmitoyltransferase, long chain base subunit 2

acts_upstream_of_or_within
involved_in

ISO
IEA
IBA

MGI:3815117 (MGI:3814228|PMID:16216550)
GO_REF:0000107
PMID:21873635
(PMID:19416851), (PMID:33558761)

RGD
Ensembl

PMID:16216550 PMID:19416851 PMID:33558761 PMID:21873635

GO_REF:0000107 MGI:3814228, RGD:13792537

NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542

Sptlc3

serine palmitoyltransferase, long chain base subunit 3

involved_in

ISO
IBA

(PMID:19416851)
PMID:21873635

RGD

PMID:19416851 PMID:21873635

RGD:13792537

NCBI chr 3:126,847,878...126,978,010
Ensembl chr 3:126,847,878...126,978,010

Sptssa

serine palmitoyltransferase, small subunit A

involved_in

ISO

(PMID:19416851), (PMID:33558761)

RGD

PMID:19416851 PMID:33558761

NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214

Sptssb

serine palmitoyltransferase, small subunit B

involved_in

ISO

(PMID:19416851)

RGD

PMID:19416851

NCBI chr 2:154,133,728...154,162,127
Ensembl chr 2:154,133,733...154,163,120

sterol biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ch25h

cholesterol 25-hydroxylase

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195

Cyb5r1

cytochrome b5 reductase 1

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr13:45,849,017...45,855,458
Ensembl chr13:45,849,091...45,855,458

Cyb5r2

cytochrome b5 reductase 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr 1:161,655,862...161,664,359
Ensembl chr 1:161,655,864...161,664,097

Dhcr7

7-dehydrocholesterol reductase

acts_upstream_of_or_within

ISO

MGI:2387406 (MGI:3056828|PMID:15005800)

RGD

PMID:15005800

MGI:3056828

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

Ebp

EBP, cholestenol delta-isomerase

acts_upstream_of_or_within

TAS
ISO

MGI:1857832 (MGI:1339492|PMID:10391218)

RGD

PMID:10391218 PMID:11171067

MGI:1339492, RGD:628445

NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826

Faxdc2

fatty acid hydroxylase domain containing 2

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr10:42,245,808...42,271,679
Ensembl chr10:42,246,868...42,271,871

Hmgcr

3-hydroxy-3-methylglutaryl-CoA reductase

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

Insig1

insulin induced gene 1

acts_upstream_of_or_within

ISO

MGI:1920249 (MGI:3689278|PMID:16955138)

RGD

PMID:16955138

MGI:3689278

NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952

Insig2

insulin induced gene 2

acts_upstream_of_or_within

ISO

MGI:1916289 (MGI:3689278|PMID:16955138)

RGD

PMID:16955138

MGI:3689278

NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923

Msmo1

methylsterol monooxygenase 1

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016

Pmvk

phosphomevalonate kinase

involved_in

ISO

(PMID:16519518)

RGD

PMID:16519518

NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364

Sqle

squalene epoxidase

involved_in

ISS
IEA
IBA
ISO

GO_REF:0000024
GO_REF:0000104
PMID:21873635
(PMID:30626872)

UniProt
RGD

PMID:30626872 PMID:21873635

GO_REF:0000024 GO_REF:0000104, RGD:13792537

NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618

testosterone biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Akr1c3

aldo-keto reductase family 1, member C3

involved_in

ISO

(PMID:16983398)

RGD

PMID:16983398

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

Cyp11a1

cytochrome P450, family 11, subfamily a, polypeptide 1

IEP

RGD

PMID:19883722

RGD:4145609

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

Cyp19a1

cytochrome P450, family 19, subfamily a, polypeptide 1

involved_in
acts_upstream_of_or_within

IEA
ISO

GO_REF:0000107
MGI:2154536 (MGI:1261712|PMID:9618522)

Ensembl
RGD

PMID:9618522

GO_REF:0000107 MGI:1261712

NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758

Hsd17b1

hydroxysteroid (17-beta) dehydrogenase 1

involved_in

IDA
ISO

(MGI:1267145|PMID:9658408)

RGD

PMID:9658408 PMID:8612487

MGI:1267145, RGD:728619

NCBI chr10:86,009,728...86,011,928
Ensembl chr10:86,009,728...86,011,927

Hsd17b3

hydroxysteroid (17-beta) dehydrogenase 3

involved_in

IEA

GO_REF:0000041

UniProt

GO_REF:0000041

NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554

Hsd3b1

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

IEP

RGD

PMID:16467141

RGD:4889544

NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999

Srd5a2

steroid 5 alpha-reductase 2

involved_in

ISO
ISS

(PMID:10898110)
GO_REF:0000024

RGD
UniProt

PMID:10898110

GO_REF:0000024

NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112

Star

steroidogenic acute regulatory protein

IEP

RGD

PMID:19883722

RGD:4145609

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

tetrahydrobiopterin biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dhfr

dihydrofolate reductase

involved_in

ISO

(PMID:23707606)
(MGI:5645206|PMID:19666465)

RGD

PMID:19666465 PMID:23707606

MGI:5645206

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

Gch1

GTP cyclohydrolase 1

involved_in

TAS
IEA
IBA
ISO

GO_REF:0000043
PMID:21873635
(PMID:17101830), (PMID:19666465), (PMID:7678411), (PMID:9445252)

UniProt
RGD

PMID:7678411 PMID:9445252 PMID:17101830 PMID:19666465 PMID:12051753 More...

GO_REF:0000043, RGD:625450, RGD:13792537

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

Pcbd1

pterin-4 alpha-carbinolamine dehydratase 1

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292
Ensembl chr20:28,953,864...29,044,292

Pcbd2

pterin-4 alpha-carbinolamine dehydratase 2

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:8,845,161...8,896,343
Ensembl chr17:8,845,084...8,910,539

Pts

6-pyruvoyl-tetrahydropterin synthase

acts_upstream_of_or_within
involved_in

TAS
ISO
IEA

(MGI:1328867|PMID:9894812)
GO_REF:0000041

RGD
UniProt

PMID:9894812 PMID:1939130

GO_REF:0000041 MGI:1328867, RGD:68294

NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869

Qdpr

quinoid dihydropteridine reductase

involved_in

TAS
IBA
IMP
IDA

PMID:21873635
PMID:1898002

RGD
GO_Central
UniProt

PMID:3680258 PMID:21873635 PMID:1898002 PMID:9235988 PMID:660556

RGD:729701, RGD:13792537, RGD:8553309, RGD:5128582, RGD:4139903

NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854

Spr

sepiapterin reductase

involved_in

TAS
IBA
IMP

PMID:21873635

RGD
GO_Central

PMID:2201030 PMID:21873635 PMID:2179471

RGD:70022, RGD:13792537, RGD:1600056

NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678

Spr-ps1

sepiapterin reductase, pseudogene 1

involved_in

IBA

PMID:21873635

GO_Central

PMID:21873635

RGD:13792537

NCBI chr 4:117,689,458...117,693,286
Ensembl chr 4:117,689,458...117,692,891

Txndc15

thioredoxin domain containing 15

involved_in

IEA

GO_REF:0000043

UniProt

GO_REF:0000043

NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539

vitamin E biosynthetic process

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pltp

phospholipid transfer protein

acts_upstream_of_or_within

ISO

MGI:2176342 (MGI:3622506|PMID:16467369)

RGD

PMID:16467369

MGI:3622506

NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647

Term paths to the root

Path 1
Term	Annotations
biological_process	19818
metabolic process	12096
biosynthetic process	6307
organic substance biosynthetic process	6218
organic hydroxy compound biosynthetic process	253
(R)-2-hydroxy-alpha-linolenic acid biosynthetic process	0
(R)-mevalonic acid biosynthetic process +	1
(S)-reticuline biosynthetic process	0
achromobactin biosynthetic process	0
ajmaline biosynthetic process	0
alcohol biosynthetic process +	156
andrastin A biosynthetic process	0
berbamunine biosynthetic process	0
bile acid biosynthetic process +	25
brexanolone biosynthetic process	0
flavonol biosynthetic process +	0
fumigermin biosynthetic process	0
glycyrrhetinate biosynthetic process	0
isopentenol biosynthetic process	0
kaempferol O-glucoside biosynthetic process	0
lactate biosynthetic process +	6
leucoanthocyanidin biosynthetic process	0
leukotriene B4 biosynthetic process	0
lipoxin A4 biosynthetic process	3
lipoxin B4 biosynthetic process	1
luteolin biosynthetic process	0
mandelate biosynthetic process	0
phenol-containing compound biosynthetic process +	53
phytosteroid biosynthetic process +	1
pyridoxal biosynthetic process	0
pyridoxal phosphate biosynthetic process +	3
pyridoxine biosynthetic process	1
quercetin biosynthetic process	0
sterol biosynthetic process +	70
terrequinone A biosynthetic process +	0
testosterone biosynthetic process +	11
vitamin D biosynthetic process +	10
vitamin E biosynthetic process +	1

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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