HORMAD2 (HORMA domain containing 2)

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Gene: HORMAD2 (HORMA domain containing 2) Homo sapiens

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Symbol:

HORMAD2

Name:

HORMA domain containing 2

RGD ID:

1348799

HGNC Page

HGNC:28383

Description:

Predicted to be involved in meiotic cell cycle and meiotic sister chromatid cohesion. Located in centrosome; cytosol; and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CT46.2; HORMA domain-containing protein 2; MGC26710

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Hormad2 (HORMA domain containing 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Hormad2 (HORMA domain containing 2)	RGD	RGD
Chinchilla lanigera (long-tailed chinchilla):	Hormad2 (HORMA domain containing 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HORMAD2 (HORMA domain containing 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	HORMAD2 (HORMA domain containing 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hormad2 (HORMA domain containing 2)	NCBI	Ortholog
Chlorocebus sabaeus (green monkey):	HORMAD2 (HORMA domain containing 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hormad2 (HORMA domain containing 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Tubb2b (tubulin, beta 2B class IIb)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Hormad2 (HORMA domain containing 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Hormad2 (HORMA domain containing 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	zte38 (zebrafish testis-expressed 38)	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER)
Danio rerio (zebrafish):	hormad1 (HORMA domain containing 1)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	HOP1	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	him-3	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	30,077,732 - 30,207,456 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	30,080,464 - 30,177,075 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	30,476,453 - 30,573,064 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	28,806,453 - 28,903,062 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	28,801,006 - 28,897,614	NCBI
Celera	22	14,276,181 - 14,372,762 (+)	NCBI		Celera
Cytogenetic Map	22	q12.2	NCBI
HuRef	22	13,438,500 - 13,534,890 (+)	NCBI		HuRef
CHM1_1	22	30,435,626 - 30,532,240 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	30,541,076 - 30,670,783 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

acetamide (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

Bisphenol A diglycidyl ether (ISO)

bisphenol F (ISO)

Cuprizon (ISO)

genistein (ISO)

lidocaine (ISO)

Theaflavin 3,3'-digallate (EXP)

trichloroethene (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

meiotic cell cycle (IEA,ISS)

meiotic sister chromatid cohesion (IEA,ISS)

Cellular Component

centrosome (IDA)

chromosome (IEA,ISS)

cytosol (IDA)

nucleoplasm (IDA)

nucleus (IEA,ISS)

synaptonemal complex (IEA)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:19915574	PMID:20473688	PMID:21399633	PMID:22893617	PMID:23039116	PMID:23128233	PMID:24797335	PMID:24803422	PMID:24968937	PMID:25013050	PMID:27941131	PMID:29509190
PMID:29987050	PMID:30039914	PMID:30657449	PMID:31857673	PMID:32296183	PMID:33961781	PMID:38400599

Genomics

Comparative Map Data

HORMAD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	30,077,732 - 30,207,456 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	30,080,464 - 30,177,075 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	30,476,453 - 30,573,064 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	28,806,453 - 28,903,062 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	28,801,006 - 28,897,614	NCBI
Celera	22	14,276,181 - 14,372,762 (+)	NCBI		Celera
Cytogenetic Map	22	q12.2	NCBI
HuRef	22	13,438,500 - 13,534,890 (+)	NCBI		HuRef
CHM1_1	22	30,435,626 - 30,532,240 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	30,541,076 - 30,670,783 (+)	NCBI		T2T-CHM13v2.0

Hormad2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	4,295,801 - 4,391,215 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	4,295,814 - 4,391,105 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	4,345,801 - 4,441,198 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	4,345,814 - 4,441,105 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	4,246,386 - 4,341,085 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	4,246,565 - 4,327,807 (-)	NCBI		MGSCv36	mm8
Celera	11	4,845,466 - 4,940,597 (-)	NCBI		Celera
Cytogenetic Map	11	A1	NCBI
cM Map	11	2.94	NCBI

Hormad2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	83,438,555 - 83,524,015 (-)	NCBI		GRCr8
mRatBN7.2	14	79,215,013 - 79,300,447 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	79,214,998 - 79,299,910 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	83,655,342 - 83,738,165 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	84,895,403 - 84,978,232 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	81,341,495 - 81,426,076 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	84,576,856 - 84,662,237 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	84,576,825 - 84,662,222 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	85,258,458 - 85,343,171 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	84,971,123 - 85,056,271 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	14	78,124,840 - 78,209,277 (-)	NCBI		Celera
Cytogenetic Map	14	q21	NCBI

Hormad2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955455	4,317,319 - 4,424,645 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955455	4,309,397 - 4,462,932 (+)	NCBI	ChiLan1.0	ChiLan1.0

HORMAD2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	23	40,043,741 - 40,159,015 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	42,742,837 - 42,857,631 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	11,113,654 - 11,213,291 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	28,919,699 - 29,015,951 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	28,920,640 - 29,015,949 (+)	Ensembl	panpan1.1		panPan2

HORMAD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	23,254,313 - 23,342,644 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	23,254,415 - 23,339,947 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	23,125,597 - 23,213,985 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	23,629,535 - 23,724,667 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	23,629,691 - 23,721,954 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	23,339,572 - 23,428,354 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	23,602,484 - 23,691,252 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	23,661,114 - 23,749,671 (+)	NCBI		UU_Cfam_GSD_1.0

Hormad2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	116,187,617 - 116,257,617 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936904	477,398 - 546,574 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936904	477,398 - 546,574 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HORMAD2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	19	12,965,088 - 13,057,576 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	12,977,944 - 13,007,296 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	113,089,685 - 113,180,451 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hormad2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624747	6,388,710 - 6,494,967 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	6,388,679 - 6,493,583 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HORMAD2
45 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	copy number gain	See cases [RCV000050553]	Chr22:26979579..33992220 [GRCh38] Chr22:27375542..34388209 [GRCh37] Chr22:25705542..32718209 [NCBI36] Chr22:22q12.1-12.3	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1	copy number loss	See cases [RCV000052870]	Chr22:28278805..31742328 [GRCh38] Chr22:28674793..32138314 [GRCh37] Chr22:27004793..30468314 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	copy number loss	See cases [RCV000052871]	Chr22:28441035..30276511 [GRCh38] Chr22:28837023..30672500 [GRCh37] Chr22:27167023..29002500 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	copy number gain	See cases [RCV000138172]	Chr22:23279231..36247369 [GRCh38] Chr22:23621418..36643415 [GRCh37] Chr22:21951418..34973361 [NCBI36] Chr22:22q11.23-12.3	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	copy number gain	See cases [RCV000137926]	Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	copy number loss	See cases [RCV000143415]	Chr22:26451042..31451926 [GRCh38] Chr22:26847008..31847912 [GRCh37] Chr22:25177008..30177912 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:29537064-30994320)x3	copy number gain	See cases [RCV000448504]	Chr22:29537064..30994320 [GRCh37] Chr22:22q12.1-12.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2(chr22:30323089-31092425)x3	copy number gain	See cases [RCV000448760]	Chr22:30323089..31092425 [GRCh37] Chr22:22q12.2	uncertain significance
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	copy number gain	See cases [RCV000510523]	Chr22:28349854..33013062 [GRCh37] Chr22:22q12.1-12.3	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	copy number gain	See cases [RCV000511098]	Chr22:23637907..36614412 [GRCh37] Chr22:22q11.23-12.3	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	copy number loss	not provided [RCV000684497]	Chr22:29644625..31051719 [GRCh37] Chr22:22q12.2	pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	copy number gain	not provided [RCV000684530]	Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_152510.4(HORMAD2):c.58G>C (p.Val20Leu)	single nucleotide variant	not provided [RCV000971448]	Chr22:30098858 [GRCh38] Chr22:30494847 [GRCh37] Chr22:22q12.2	benign
inv(22)(q12.2q12.2)	inversion	Anaplastic ependymoma [RCV000785873]	Chr22:29684716..31740655 [GRCh37] Chr22:22q12.2	likely pathogenic
NM_152510.4(HORMAD2):c.625C>G (p.Leu209Val)	single nucleotide variant	not specified [RCV004306126]	Chr22:30122020 [GRCh38] Chr22:30518009 [GRCh37] Chr22:22q12.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_29083885)_(34046674_?)dup	duplication	not provided [RCV001979643]	Chr22:29083885..34046674 [GRCh37] Chr22:22q12.1-12.3	uncertain significance
NM_152510.4(HORMAD2):c.920A>G (p.Lys307Arg)	single nucleotide variant	not specified [RCV004308644]	Chr22:30176163 [GRCh38] Chr22:30572152 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.913A>G (p.Asn305Asp)	single nucleotide variant	not specified [RCV004318531]	Chr22:30176156 [GRCh38] Chr22:30572145 [GRCh37] Chr22:22q12.2	likely benign
GRCh37/hg19 22q12.2(chr22:30451190-30604975)x1	copy number loss	not provided [RCV002473619]	Chr22:30451190..30604975 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.892C>T (p.Pro298Ser)	single nucleotide variant	not specified [RCV004108986]	Chr22:30176135 [GRCh38] Chr22:30572124 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.118G>T (p.Ala40Ser)	single nucleotide variant	not specified [RCV004198559]	Chr22:30098918 [GRCh38] Chr22:30494907 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.781G>A (p.Gly261Ser)	single nucleotide variant	not specified [RCV004179956]	Chr22:30122176 [GRCh38] Chr22:30518165 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.613A>T (p.Asn205Tyr)	single nucleotide variant	not specified [RCV004206769]	Chr22:30122008 [GRCh38] Chr22:30517997 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.841T>C (p.Cys281Arg)	single nucleotide variant	not specified [RCV004196326]	Chr22:30176084 [GRCh38] Chr22:30572073 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.748C>T (p.Arg250Trp)	single nucleotide variant	not specified [RCV004401910]	Chr22:30122143 [GRCh38] Chr22:30518132 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.758G>A (p.Ser253Asn)	single nucleotide variant	not specified [RCV004401911]	Chr22:30122153 [GRCh38] Chr22:30518142 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.152G>T (p.Gly51Val)	single nucleotide variant	not specified [RCV004399923]	Chr22:30098952 [GRCh38] Chr22:30494941 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.52G>A (p.Glu18Lys)	single nucleotide variant	not specified [RCV004399924]	Chr22:30098852 [GRCh38] Chr22:30494841 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.560A>G (p.Tyr187Cys)	single nucleotide variant	not specified [RCV004399926]	Chr22:30121781 [GRCh38] Chr22:30517770 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.727G>T (p.Asp243Tyr)	single nucleotide variant	not specified [RCV004399927]	Chr22:30122122 [GRCh38] Chr22:30518111 [GRCh37] Chr22:22q12.2	uncertain significance
NM_152510.4(HORMAD2):c.772G>A (p.Ala258Thr)	single nucleotide variant	not specified [RCV004632980]	Chr22:30122167 [GRCh38] Chr22:30518156 [GRCh37] Chr22:22q12.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	792
Count of miRNA genes:	389
Interacting mature miRNAs:	421
Transcripts:	ENST00000336726, ENST00000403975, ENST00000450612, ENST00000491605
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407012162	GWAS661138_H	testosterone measurement QTL GWAS661138 (human)		4e-10	testosterone measurement	serum testosterone level (CMO:0000568)	22	30128259	30128260	Human
406895171	GWAS544147_H	neutrophil percentage of leukocytes QTL GWAS544147 (human)		7e-10	neutrophil percentage of leukocytes	blood neutrophil count to total leukocyte count ratio (CMO:0000370)	22	30153082	30153083	Human
406969674	GWAS618650_H	parental longevity QTL GWAS618650 (human)		0.000002	parental longevity		22	30091270	30091271	Human
407124559	GWAS773535_H	glucose measurement QTL GWAS773535 (human)		2e-08	glucose measurement	blood glucose level (CMO:0000046)	22	30202527	30202528	Human
407406148	GWAS1055124_H	cataract QTL GWAS1055124 (human)		1e-12	cataract		22	30135112	30135113	Human
407120982	GWAS769958_H	glucose measurement QTL GWAS769958 (human)		3e-09	glucose measurement	blood glucose level (CMO:0000046)	22	30202527	30202528	Human
406985297	GWAS634273_H	tonsillitis QTL GWAS634273 (human)		2e-20	tonsillitis		22	30196498	30196499	Human
407302482	GWAS951458_H	breast cancer QTL GWAS951458 (human)		0.000002	breast cancer		22	30206116	30206117	Human
407146578	GWAS795554_H	blood protein measurement QTL GWAS795554 (human)		3e-14	blood protein measurement	blood protein measurement (CMO:0000028)	22	30098382	30098383	Human
407244126	GWAS893102_H	platelet-to-lymphocyte ratio QTL GWAS893102 (human)		7e-20	platelet-to-lymphocyte ratio		22	30174033	30174034	Human
407146588	GWAS795564_H	chronic kidney disease QTL GWAS795564 (human)		0.000004	chronic kidney disease		22	30196080	30196081	Human
407085155	GWAS734131_H	serum non-albumin protein measurement QTL GWAS734131 (human)		3e-10	serum non-albumin protein measurement	serum globulin level (CMO:0002399)	22	30144601	30144602	Human
406971232	GWAS620208_H	pain QTL GWAS620208 (human)		7e-09	pain		22	30156824	30156825	Human
407129189	GWAS778165_H	Crohn's disease QTL GWAS778165 (human)		7e-12	Crohn's disease		22	30196498	30196499	Human
407240295	GWAS889271_H	lymphocyte:monocyte ratio QTL GWAS889271 (human)		6e-18	lymphocyte:monocyte ratio		22	30090837	30090838	Human
407281508	GWAS930484_H	cup-to-disc ratio measurement QTL GWAS930484 (human)		2e-08	cup-to-disc ratio measurement		22	30107838	30107839	Human
406927203	GWAS576179_H	body height QTL GWAS576179 (human)		3e-08	body height (VT:0001253)	body height (CMO:0000106)	22	30116489	30116490	Human
406972771	GWAS621747_H	C-X-C motif chemokine 13 measurement QTL GWAS621747 (human)		6e-15	chemokine amount (VT:0008721)		22	30141537	30141538	Human
406917986	GWAS566962_H	cup-to-disc ratio measurement QTL GWAS566962 (human)		8e-19	cup-to-disc ratio measurement		22	30174033	30174034	Human
407101286	GWAS750262_H	mean corpuscular hemoglobin QTL GWAS750262 (human)		1e-36	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	22	30154391	30154392	Human
407160942	GWAS809918_H	very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS809918 (human)		3e-13	very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio	blood very low density lipoprotein cholesterol level (CMO:0000648)	22	30143832	30143833	Human
407302509	GWAS951485_H	type 2 diabetes mellitus QTL GWAS951485 (human)		9e-09	type 2 diabetes mellitus		22	30156824	30156825	Human
407386468	GWAS1035444_H	lymphocyte count QTL GWAS1035444 (human)		2e-74	lymphocyte count	blood lymphocyte count (CMO:0000031)	22	30181782	30181783	Human
407090803	GWAS739779_H	creatine kinase measurement QTL GWAS739779 (human)		1e-08	creatine kinase measurement	blood creatine kinase activity level (CMO:0002242)	22	30126424	30126425	Human
2289428	BW313_H	Body weight QTL 313 (human)	2.09	0.0015	Body weight	BMI	22	11344284	37344284	Human
407220092	GWAS869068_H	type 2 diabetes mellitus QTL GWAS869068 (human)		4e-14	type 2 diabetes mellitus		22	30192052	30192053	Human
407069310	GWAS718286_H	blood protein measurement QTL GWAS718286 (human)		4e-20	blood protein measurement	blood protein measurement (CMO:0000028)	22	30105497	30105498	Human
406999043	GWAS648019_H	IGA glomerulonephritis QTL GWAS648019 (human)		6e-13	IGA glomerulonephritis		22	30098382	30098383	Human
407314693	GWAS963669_H	serum non-albumin protein measurement QTL GWAS963669 (human)		1e-32	serum non-albumin protein measurement	serum globulin level (CMO:0002399)	22	30105497	30105498	Human
407297039	GWAS946015_H	lymphocyte count QTL GWAS946015 (human)		1e-29	lymphocyte count	blood lymphocyte count (CMO:0000031)	22	30116269	30116270	Human
407208206	GWAS857182_H	type 2 diabetes mellitus QTL GWAS857182 (human)		2e-11	type 2 diabetes mellitus		22	30156522	30156523	Human
407174923	GWAS823899_H	lung carcinoma QTL GWAS823899 (human)		0.000003	lung carcinoma		22	30187562	30187563	Human
407086611	GWAS735587_H	albumin:globulin ratio measurement QTL GWAS735587 (human)		2e-10	albumin:globulin ratio measurement		22	30143832	30143833	Human
407320350	GWAS969326_H	HbA1c measurement QTL GWAS969326 (human)		2e-13	HbA1c measurement	blood hemoglobin A1c level (CMO:0002786)	22	30202563	30202564	Human
407222041	GWAS871017_H	type 1 diabetes mellitus QTL GWAS871017 (human)		1e-12	type 1 diabetes mellitus		22	30135102	30135103	Human
407170329	GWAS819305_H	appendicular lean mass QTL GWAS819305 (human)		1e-21	appendicular lean mass		22	30153082	30153083	Human
406999587	GWAS648563_H	Crohn's disease QTL GWAS648563 (human)		0.0000008	Crohn's disease		22	30097893	30097894	Human
407343907	GWAS992883_H	lymphocyte count QTL GWAS992883 (human)		9e-45	lymphocyte count	blood lymphocyte count (CMO:0000031)	22	30107182	30107183	Human
406937892	GWAS586868_H	serum albumin measurement QTL GWAS586868 (human)		1e-08	serum albumin measurement	serum albumin level (CMO:0000550)	22	30201821	30201822	Human
407295776	GWAS944752_H	hypothyroidism QTL GWAS944752 (human)		3e-20	hypothyroidism		22	30149160	30149161	Human
407014437	GWAS663413_H	Thyroid preparation use measurement QTL GWAS663413 (human)		3e-14	inflammatory bowel disease		22	30090837	30090838	Human
406886447	GWAS535423_H	breast carcinoma QTL GWAS535423 (human)		0.0000002	breast carcinoma		22	30168182	30168183	Human
407032370	GWAS681346_H	inflammatory bowel disease QTL GWAS681346 (human)		3e-15	inflammatory bowel disease		22	30174033	30174034	Human
407160631	GWAS809607_H	disease progression measurement QTL GWAS809607 (human)		0.000007	disease progression measurement	disease progression measurement (CMO:0001110)	22	30196498	30196499	Human
407362623	GWAS1011599_H	leukocyte count QTL GWAS1011599 (human)		3e-11	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	22	30194233	30194234	Human
407244861	GWAS893837_H	neutrophil-to-lymphocyte ratio QTL GWAS893837 (human)		5e-17	neutrophil-to-lymphocyte ratio		22	30090837	30090838	Human
406975805	GWAS624781_H	forced expiratory volume QTL GWAS624781 (human)		7e-28	forced expiratory volume	forced expiratory volume (CMO:0000254)	22	30196080	30196081	Human
407132217	GWAS781193_H	free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS781193 (human)		5e-14	free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	22	30153082	30153083	Human
407005378	GWAS654354_H	inflammatory bowel disease QTL GWAS654354 (human)		4e-08	inflammatory bowel disease		22	30097893	30097894	Human
407388616	GWAS1037592_H	lymphocyte count QTL GWAS1037592 (human)		3e-21	lymphocyte count	blood lymphocyte count (CMO:0000031)	22	30181782	30181783	Human
407336641	GWAS985617_H	mean corpuscular volume QTL GWAS985617 (human)		3e-31	mean corpuscular volume	mean corpuscular volume (CMO:0000038)	22	30156706	30156707	Human
407111363	GWAS760339_H	hypothyroidism QTL GWAS760339 (human)		2e-11	hypothyroidism		22	30144601	30144602	Human
407412175	GWAS1061151_H	low density lipoprotein cholesterol measurement QTL GWAS1061151 (human)		1e-17	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	22	30179760	30179761	Human
407081423	GWAS730399_H	total blood protein measurement QTL GWAS730399 (human)		4e-26	total blood protein measurement	blood protein measurement (CMO:0000028)	22	30130643	30130644	Human
406980820	GWAS629796_H	BMI-adjusted waist circumference QTL GWAS629796 (human)		5e-11	BMI-adjusted waist circumference		22	30095011	30095012	Human
407385808	GWAS1034784_H	lymphocyte count QTL GWAS1034784 (human)		6e-75	lymphocyte count	blood lymphocyte count (CMO:0000031)	22	30181782	30181783	Human
407039195	GWAS688171_H	optic disc area measurement QTL GWAS688171 (human)		3e-08	optic disc area measurement		22	30090837	30090838	Human
406969048	GWAS618024_H	tonsillectomy risk measurement QTL GWAS618024 (human)		1e-09	tonsillectomy risk measurement		22	30098382	30098383	Human
407186399	GWAS835375_H	cup-to-disc ratio measurement QTL GWAS835375 (human)		5e-24	cup-to-disc ratio measurement		22	30196498	30196499	Human
407039202	GWAS688178_H	optic disc area measurement QTL GWAS688178 (human)		0.000001	optic disc area measurement		22	30090837	30090838	Human
407125220	GWAS774196_H	type 1 diabetes mellitus QTL GWAS774196 (human)		3e-16	type 1 diabetes mellitus		22	30185733	30185734	Human
406965474	GWAS614450_H	IGA glomerulonephritis QTL GWAS614450 (human)		6e-11	IGA glomerulonephritis		22	30098382	30098383	Human
407192800	GWAS841776_H	lymphocyte count QTL GWAS841776 (human)		4e-23	lymphocyte count	blood lymphocyte count (CMO:0000031)	22	30174033	30174034	Human
407189987	GWAS838963_H	hypothyroidism QTL GWAS838963 (human)		2e-16	hypothyroidism		22	30116269	30116270	Human
406984164	GWAS633140_H	disorder of pharynx QTL GWAS633140 (human)		7e-18	disorder of pharynx		22	30196498	30196499	Human
407033573	GWAS682549_H	ulcerative colitis QTL GWAS682549 (human)		0.000001	ulcerative colitis		22	30097893	30097894	Human
407179501	GWAS828477_H	testosterone measurement QTL GWAS828477 (human)		9e-10	testosterone measurement	serum testosterone level (CMO:0000568)	22	30137420	30137421	Human
406888938	GWAS537914_H	mean corpuscular hemoglobin QTL GWAS537914 (human)		5e-15	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	22	30109129	30109130	Human
407363049	GWAS1012025_H	Thyroid preparation use measurement QTL GWAS1012025 (human)		1e-16	Thyroid preparation use measurement		22	30090837	30090838	Human
406934257	GWAS583233_H	optic cup area measurement QTL GWAS583233 (human)		5e-09	optic cup area measurement		22	30133642	30133643	Human
406976499	GWAS625475_H	tonsillitis QTL GWAS625475 (human)		2e-13	tonsillitis		22	30181782	30181783	Human
407153910	GWAS802886_H	cup-to-disc ratio measurement QTL GWAS802886 (human)		9e-14	cup-to-disc ratio measurement		22	30196498	30196499	Human
406977010	GWAS625986_H	dental pulp disease QTL GWAS625986 (human)		7e-10	dental pulp disease		22	30186009	30186010	Human
407048695	GWAS697671_H	kidney disease QTL GWAS697671 (human)		2e-09	kidney disease		22	30098382	30098383	Human
407345137	GWAS994113_H	alcohol consumption measurement QTL GWAS994113 (human)		1e-14	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	22	30116489	30116490	Human
407148540	GWAS797516_H	Behcet's syndrome QTL GWAS797516 (human)		0.000002	Behcet's syndrome		22	30196853	30196854	Human
407198459	GWAS847435_H	hearing threshold measurement, hearing measurement QTL GWAS847435 (human)		0.000003	hearing threshold measurement, hearing measurement	hearing physiological measurement (CMO:0002204)	22	30108218	30108219	Human
407109117	GWAS758093_H	neutrophil percentage of leukocytes QTL GWAS758093 (human)		2e-24	neutrophil percentage of leukocytes	blood neutrophil count to total leukocyte count ratio (CMO:0000370)	22	30123836	30123837	Human
1581529	BP71_H	Blood pressure QTL 71 (human)	2	0.001	Blood pressure	pulse pressure	22	11094966	37094966	Human
407034497	GWAS683473_H	vital capacity QTL GWAS683473 (human)		2e-21	vital capacity		22	30196498	30196499	Human
406998918	GWAS647894_H	mean corpuscular volume QTL GWAS647894 (human)		2e-48	mean corpuscular volume	mean corpuscular volume (CMO:0000038)	22	30156706	30156707	Human
407034249	GWAS683225_H	alcohol consumption measurement QTL GWAS683225 (human)		2e-14	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	22	30133642	30133643	Human
407179670	GWAS828646_H	blood protein measurement QTL GWAS828646 (human)		3e-28	blood protein measurement	blood protein measurement (CMO:0000028)	22	30098382	30098383	Human
407143569	GWAS792545_H	Moyamoya disease QTL GWAS792545 (human)		8e-12	Moyamoya disease		22	30205254	30205255	Human
407003289	GWAS652265_H	lymphocyte percentage of leukocytes QTL GWAS652265 (human)		5e-35	lymphocyte percentage of leukocytes	blood lymphocyte count to total leukocyte count ratio (CMO:0000371)	22	30098382	30098383	Human
407336860	GWAS985836_H	mean corpuscular hemoglobin QTL GWAS985836 (human)		2e-28	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	22	30122513	30122514	Human
407330972	GWAS979948_H	total cholesterol measurement QTL GWAS979948 (human)		2e-10	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	22	30133752	30133753	Human
407216537	GWAS865513_H	cup-to-disc ratio measurement QTL GWAS865513 (human)		4e-27	cup-to-disc ratio measurement		22	30174033	30174034	Human
407346074	GWAS995050_H	total cholesterol measurement QTL GWAS995050 (human)		6e-22	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	22	30133971	30133972	Human
407189659	GWAS838635_H	IGA glomerulonephritis QTL GWAS838635 (human)		0.000003	IGA glomerulonephritis		22	30098382	30098383	Human
406934431	GWAS583407_H	cup-to-disc ratio measurement QTL GWAS583407 (human)		2e-09	inflammatory bowel disease		22	30133642	30133643	Human
406965411	GWAS614387_H	IGA glomerulonephritis QTL GWAS614387 (human)		5e-12	IGA glomerulonephritis		22	30098382	30098383	Human
407063204	GWAS712180_H	self reported educational attainment QTL GWAS712180 (human)		2e-08	self reported educational attainment		22	30108663	30108664	Human
407291052	GWAS940028_H	HbA1c measurement QTL GWAS940028 (human)		5e-14	HbA1c measurement	blood hemoglobin A1c level (CMO:0002786)	22	30196080	30196081	Human
407038387	GWAS687363_H	rheumatoid arthritis, Crohn's disease QTL GWAS687363 (human)		6e-10	rheumatoid arthritis, Crohn's disease		22	30174033	30174034	Human
407256755	GWAS905731_H	inflammatory bowel disease QTL GWAS905731 (human)		2e-15	inflammatory bowel disease		22	30174033	30174034	Human
407225267	GWAS874243_H	tonsillectomy risk measurement QTL GWAS874243 (human)		6e-34	tonsillectomy risk measurement		22	30185871	30185872	Human
407354815	GWAS1003791_H	vital capacity QTL GWAS1003791 (human)		8e-13	vital capacity		22	30202527	30202528	Human
407031224	GWAS680200_H	Crohn's disease QTL GWAS680200 (human)		6e-13	Crohn's disease		22	30097893	30097894	Human
406893244	GWAS542220_H	lymphocyte percentage of leukocytes QTL GWAS542220 (human)		1e-13	lymphocyte percentage of leukocytes	blood lymphocyte count to total leukocyte count ratio (CMO:0000371)	22	30153082	30153083	Human

Markers in Region

RH94370

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	30,572,650 - 30,572,772	UniSTS	GRCh37
Build 36	22	28,902,650 - 28,902,772	RGD	NCBI36
Celera	22	14,372,350 - 14,372,472	RGD
Cytogenetic Map	22	q12.2	UniSTS
HuRef	22	13,534,478 - 13,534,600	UniSTS
GeneMap99-GB4 RH Map	22	85.31	UniSTS

D22S596

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	30,550,152 - 30,550,252	UniSTS	GRCh37
Build 36	22	28,880,152 - 28,880,252	RGD	NCBI36
Celera	22	14,349,857 - 14,349,957	RGD
Cytogenetic Map	22	q12.2	UniSTS
HuRef	22	13,511,978 - 13,512,078	UniSTS
Whitehead-RH Map	22	92.9	UniSTS
Whitehead-YAC Contig Map	22		UniSTS
NCBI RH Map	22	125.2	UniSTS

D22S268

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	30,558,201 - 30,558,453	UniSTS	GRCh37
Build 36	22	28,888,201 - 28,888,453	RGD	NCBI36
Celera	22	14,357,906 - 14,358,152	RGD
Cytogenetic Map	22	q12.2	UniSTS
HuRef	22	13,520,035 - 13,520,281	UniSTS
Stanford-G3 RH Map	22	640.0	UniSTS
Whitehead-YAC Contig Map	22		UniSTS
NCBI RH Map	22	129.5	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
832	781	927	611	3589	956	1172	479	675	380	1175	2485	2395	10	3095	378	957	698	100

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001329457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001329458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028622	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC002378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC003071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI459310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI829841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS568998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY002382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY043044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000336726 ⟹ ENSP00000336984

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	30,080,464 - 30,177,075 (+)	Ensembl

Ensembl Acc Id:

ENST00000403975 ⟹ ENSP00000385055

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	30,081,011 - 30,177,073 (+)	Ensembl

Ensembl Acc Id:

ENST00000450612 ⟹ ENSP00000393415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	30,080,472 - 30,122,033 (+)	Ensembl

Ensembl Acc Id:

ENST00000491605

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	30,093,958 - 30,104,577 (+)	Ensembl

RefSeq Acc Id:

NM_001329457 ⟹ NP_001316386

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,464 - 30,177,075 (+)	NCBI
T2T-CHM13v2.0	22	30,543,816 - 30,640,412 (+)	NCBI

Sequence:

show sequence

GGTGGGAGGGAAGCGTCGACGAGCTGAGGATCATAATCTAATTTCTCCTCCATTGGACCATCAA
TCTGTTGAGGTTGGACTTGTTGAAATAATCCTGATACATTCCTACAATGGCCACTGCTCAGCTT
TCTCACTGCATCACAATACACAAGGCTTCTAAGGAAACAGTTTTCCCATCCCAAATCACTAATG
AGCATGAGTCATTGAAAATGGTGAAGAAACTTTTTGCTACTTCCATCTCATGTATAACATACCT
AAGGGGCCTGTTTCCAGAGAGCTCTTATGGAGAACGCCATTTGGATGACCTCAGTTTAAAAATC
CTCCGAGAAGATAAAAAATGTCCCGGGTCACTGCATATTATCAGATGGATTCAAGGTTGTTTTG
ATGCTTTGGAAAAGAGATACCTACGTATGGCAGTACTGACACTTTACACAGATCCCATGGGATC
TGAGAAGGTGACTGAGATGTACCAGTTCAAATTCAAATACACGAAAGAAGGAGCCACTATGGAT
TTTGACAGTCATAGCAGCAGTACAAGCTTTGAAAGTGGAACAAACAATGAAGATATTAAGAAAG
CCAGTGTTCTACTGATCCGTAAATTGTATATACTGATGCAGGACCTTGAGCCACTTCCTAATAA
TGTTGTACTTACTATGAAACTCCACTACTATAATGCAGTGACCCCACATGATTACCAACCCCTC
GGTTTTAAAGAAGGGGTAAATTCACACTTCCTGCTGTTTGACAAGGAGCCTATCAACGTGCAAG
TGGGATTTGTCTCCACTGGCTTTCATAGCATGAAAGTAAAAGTCATGACAGAGGCTACAAAAGT
GATTGATTTGGAGAACAATCTGTTTCGGGAGAACAGCACTACTGAGATCGCCCATCAGGGTCTA
GACTGTGATGAGGAAGAAGAATGCAATGACCATATTCAAAGAATGAATTTTGTGTGCAGTCAGC
AAAGTTCTGAGTGCTCCAGGAAGAAGAGGAAGGTCAGTGAACCAGTGAAGGTCTTCATCCCTAA
CAGAAAATGAAAGCTAAATATTCCTTCTACATTTATTTTAAAATAAGTTTATTTTGTAAAAACA
TGCATAAACTGTCTTAGCAGGAAAGTACATTCCTGTTACCAAAACCTTTTTCTAAATTTTTTGC
TCAATTTTTTTTGTCAGTTGCTAAGTGCTAAATTACTGGCCAGGTAGGACGCGAGTCCACTTTG
CCATAAGGAAAGCGGGTCAATAGGGCTGCCTCTGGATAGCATTACTTCAAAGCTGGGTTAGAGA
TGAGGCACCTTTTATATTATATTTGTAAAAGAACCACAGCAGCTATTTTGGAAAGAAGCTGTTG
TTCTCAAAGGAAAGAAGGATTTTTTTGCATAATTAAACTCTTCAGCTATTTAGACTACTGTGAA
ATGTTTTGACTTGTTGTAACCTGTATACTGGAATCCCTCTCTAGCTGTATTAAAAATTCCCACA
GAGTTGCATAGGATGTGTGGAGGTGCTTATCCAGGTGTGATTTATGTGTTAACCTCAGTCACGA
GGTTGATCAGCTAATTGTGGGACCAAAATGTGCCCTGCCTCAACTCTGGCCCCAGGCCCTGTTC
TGTTATCCAATCCGAAACACGGAACATGCTGCAATTCAGGAGTCTGGCTCTCTTCTTAAGACCT
ATATTAAATATTTCCCAAGAAGCACTTCAGTTTATCAGTCTGTAACCTGCAAATGATGCTATTA
GTTCCCTCCTTATTCTGGAAGAATTTGGATAGACTTAATTGATGATTAGTATGAGATGAACAAT
AGATGACTTAAAGTGTTATTTCTATTATTTATATAACATGAGATTTAGTAACTTATAAAATGAG
GTTTAGTAATTTAATTTAAATGGATAGGACCAATAAGTTAAATATTAAGTGTGTGACTTATGGT
TAAATAAAATGAAAATACAAGA

hide sequence

RefSeq Acc Id:

NM_001329458 ⟹ NP_001316387

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,464 - 30,177,075 (+)	NCBI
T2T-CHM13v2.0	22	30,543,816 - 30,640,412 (+)	NCBI

Sequence:

show sequence

GGTGGGAGGGAAGCGTCGACGAGCTGAGGTTGGACTTGTTGAAATAATCCTGATACATTCCTAC
AATGGCCACTGCTCAGCTTTCTCACTGCATCACAATACACAAGGCTTCTAAGGAAACAGTTTTC
CCATCCCAAATCACTAATGAGCATGAGTCATTGAAAATGGTGAAGAAACTTTTTGCTACTTCCA
TCTCATGTATAACATACCTAAGGGGCCTGTTTCCAGAGAGCTCTTATGGAGAACGCCATTTGGA
TGACCTCAGTTTAAAAATCCTCCGAGAAGATAAAAAATGTCCCGGGTCACTGCATATTATCAGA
TGCTACGTATGGCAGTACTGACACTTTACACAGATCCCATGGGATCTGAGAAGGTGACTGAGAT
GTACCAGTTCAAATTCAAATACACGAAAGAAGGAGCCACTATGGATTTTGACAGTCATAGCAGC
AGTACAAGCTTTGAAAGTGGAACAAACAATGAAGATATTAAGAAAGCCAGTGTTCTACTGATCC
GTAAATTGTATATACTGATGCAGGACCTTGAGCCACTTCCTAATAATGTTGTACTTACTATGAA
ACTCCACTACTATAATGCAGTGACCCCACATGATTACCAACCCCTCGGTTTTAAAGAAGGGGTA
AATTCACACTTCCTGCTGTTTGACAAGGAGCCTATCAACGTGCAAGTGGGATTTGTCTCCACTG
GCTTTCATAGCATGAAAGTAAAAGTCATGACAGAGGCTACAAAAGTGATTGATTTGGAGAACAA
TCTGTTTCGGGAGAACAGCACTACTGAGATCGCCCATCAGGGTCTAGACTGTGATGAGGAAGAA
GAATGCAATGACCATATTCAAAGAATGAATTTTGTGTGCAGTCAGCAAAGTTCTGAGTGCTCCA
GGAAGAAGAGGAAGGTCAGTGAACCAGTGAAGGTCTTCATCCCTAACAGAAAATGAAAGCTAAA
TATTCCTTCTACATTTATTTTAAAATAAGTTTATTTTGTAAAAACATGCATAAACTGTCTTAGC
AGGAAAGTACATTCCTGTTACCAAAACCTTTTTCTAAATTTTTTGCTCAATTTTTTTTGTCAGT
TGCTAAGTGCTAAATTACTGGCCAGGTAGGACGCGAGTCCACTTTGCCATAAGGAAAGCGGGTC
AATAGGGCTGCCTCTGGATAGCATTACTTCAAAGCTGGGTTAGAGATGAGGCACCTTTTATATT
ATATTTGTAAAAGAACCACAGCAGCTATTTTGGAAAGAAGCTGTTGTTCTCAAAGGAAAGAAGG
ATTTTTTTGCATAATTAAACTCTTCAGCTATTTAGACTACTGTGAAATGTTTTGACTTGTTGTA
ACCTGTATACTGGAATCCCTCTCTAGCTGTATTAAAAATTCCCACAGAGTTGCATAGGATGTGT
GGAGGTGCTTATCCAGGTGTGATTTATGTGTTAACCTCAGTCACGAGGTTGATCAGCTAATTGT
GGGACCAAAATGTGCCCTGCCTCAACTCTGGCCCCAGGCCCTGTTCTGTTATCCAATCCGAAAC
ACGGAACATGCTGCAATTCAGGAGTCTGGCTCTCTTCTTAAGACCTATATTAAATATTTCCCAA
GAAGCACTTCAGTTTATCAGTCTGTAACCTGCAAATGATGCTATTAGTTCCCTCCTTATTCTGG
AAGAATTTGGATAGACTTAATTGATGATTAGTATGAGATGAACAATAGATGACTTAAAGTGTTA
TTTCTATTATTTATATAACATGAGATTTAGTAACTTATAAAATGAGGTTTAGTAATTTAATTTA
AATGGATAGGACCAATAAGTTAAATATTAAGTGTGTGACTTATGGTTAAATAAAATGAAAATAC
AAGA

hide sequence

RefSeq Acc Id:

NM_152510 ⟹ NP_689723

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,464 - 30,177,075 (+)	NCBI
GRCh37	22	30,476,453 - 30,573,064 (+)	NCBI
Build 36	22	28,806,453 - 28,903,062 (+)	NCBI Archive
Celera	22	14,276,181 - 14,372,762 (+)	RGD
HuRef	22	13,438,500 - 13,534,890 (+)	RGD
CHM1_1	22	30,435,626 - 30,532,240 (+)	NCBI
T2T-CHM13v2.0	22	30,543,816 - 30,640,412 (+)	NCBI

Sequence:

show sequence

GGTGGGAGGGAAGCGTCGACGAGCTGAGGTTGGACTTGTTGAAATAATCCTGATACATTCCTAC
AATGGCCACTGCTCAGCTTTCTCACTGCATCACAATACACAAGGCTTCTAAGGAAACAGTTTTC
CCATCCCAAATCACTAATGAGCATGAGTCATTGAAAATGGTGAAGAAACTTTTTGCTACTTCCA
TCTCATGTATAACATACCTAAGGGGCCTGTTTCCAGAGAGCTCTTATGGAGAACGCCATTTGGA
TGACCTCAGTTTAAAAATCCTCCGAGAAGATAAAAAATGTCCCGGGTCACTGCATATTATCAGA
TGGATTCAAGGTTGTTTTGATGCTTTGGAAAAGAGATACCTACGTATGGCAGTACTGACACTTT
ACACAGATCCCATGGGATCTGAGAAGGTGACTGAGATGTACCAGTTCAAATTCAAATACACGAA
AGAAGGAGCCACTATGGATTTTGACAGTCATAGCAGCAGTACAAGCTTTGAAAGTGGAACAAAC
AATGAAGATATTAAGAAAGCCAGTGTTCTACTGATCCGTAAATTGTATATACTGATGCAGGACC
TTGAGCCACTTCCTAATAATGTTGTACTTACTATGAAACTCCACTACTATAATGCAGTGACCCC
ACATGATTACCAACCCCTCGGTTTTAAAGAAGGGGTAAATTCACACTTCCTGCTGTTTGACAAG
GAGCCTATCAACGTGCAAGTGGGATTTGTCTCCACTGGCTTTCATAGCATGAAAGTAAAAGTCA
TGACAGAGGCTACAAAAGTGATTGATTTGGAGAACAATCTGTTTCGGGAGAACAGCACTACTGA
GATCGCCCATCAGGGTCTAGACTGTGATGAGGAAGAAGAATGCAATGACCATATTCAAAGAATG
AATTTTGTGTGCAGTCAGCAAAGTTCTGAGTGCTCCAGGAAGAAGAGGAAGGTCAGTGAACCAG
TGAAGGTCTTCATCCCTAACAGAAAATGAAAGCTAAATATTCCTTCTACATTTATTTTAAAATA
AGTTTATTTTGTAAAAACATGCATAAACTGTCTTAGCAGGAAAGTACATTCCTGTTACCAAAAC
CTTTTTCTAAATTTTTTGCTCAATTTTTTTTGTCAGTTGCTAAGTGCTAAATTACTGGCCAGGT
AGGACGCGAGTCCACTTTGCCATAAGGAAAGCGGGTCAATAGGGCTGCCTCTGGATAGCATTAC
TTCAAAGCTGGGTTAGAGATGAGGCACCTTTTATATTATATTTGTAAAAGAACCACAGCAGCTA
TTTTGGAAAGAAGCTGTTGTTCTCAAAGGAAAGAAGGATTTTTTTGCATAATTAAACTCTTCAG
CTATTTAGACTACTGTGAAATGTTTTGACTTGTTGTAACCTGTATACTGGAATCCCTCTCTAGC
TGTATTAAAAATTCCCACAGAGTTGCATAGGATGTGTGGAGGTGCTTATCCAGGTGTGATTTAT
GTGTTAACCTCAGTCACGAGGTTGATCAGCTAATTGTGGGACCAAAATGTGCCCTGCCTCAACT
CTGGCCCCAGGCCCTGTTCTGTTATCCAATCCGAAACACGGAACATGCTGCAATTCAGGAGTCT
GGCTCTCTTCTTAAGACCTATATTAAATATTTCCCAAGAAGCACTTCAGTTTATCAGTCTGTAA
CCTGCAAATGATGCTATTAGTTCCCTCCTTATTCTGGAAGAATTTGGATAGACTTAATTGATGA
TTAGTATGAGATGAACAATAGATGACTTAAAGTGTTATTTCTATTATTTATATAACATGAGATT
TAGTAACTTATAAAATGAGGTTTAGTAATTTAATTTAAATGGATAGGACCAATAAGTTAAATAT
TAAGTGTGTGACTTATGGTTAAATAAAATGAAAATACAAGA

hide sequence

RefSeq Acc Id:

XM_011529914 ⟹ XP_011528216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,464 - 30,207,456 (+)	NCBI

Sequence:

show sequence

GGGACCCGCCGGCCTGGCGTCCTGGCCCGCCCGAGCCCCACGGTCCCTCGGGTCCTAACCTCGG
CGGGGCAGGCACCTCCTCAGGAAGCCCCGGAGCAGGCTGTCGTTGTATAGGTGGCCCAGGCTGG
CGGCCCCTGACCGAAGGTCGCGTCGGGTCAGTGTGCAGCCCGTGGCTGAGAGGCGGCTGCTGAG
GGGCCGGGCGGGCTAGGGGCCGGCTAGCCGCCGTTCGCCCCTGCTTTGCATATTCATGAAGTCT
AGCGAGGCCGGTCGCCCAGGCTAGCCGTGGACGGGTCATGAATTATTCATGAGGAAACCTCTGG
TCCCGCCCAGAAAGGCCTCGTTGACTATTCATGAGCCGAGGAGCGGGTTTGGGCCGGAAAAGGC
CGTTGACCCCCGGTGGGAGGGAAGCGTCGACGAGCTGAGGTTGGACTTGTTGAAATAATCCTGA
TACATTCCTACAATGGCCACTGCTCAGCTTTCTCACTGCATCACAATACACAAGGCTTCTAAGG
AAACAGTTTTCCCATCCCAAATCACTAATGAGCATGAGTCATTGAAAATGGTGAAGAAACTTTT
TGCTACTTCCATCTCATGTATAACATACCTAAGGGGCCTGTTTCCAGAGAGCTCTTATGGAGAA
CGCCATTTGGATGACCTCAGTTTAAAAATCCTCCGAGAAGATAAAAAATGTCCCGGGTCACTGC
ATATTATCAGATGGATTCAAGGTTGTTTTGATGCTTTGGAAAAGAGATACCTACGTATGGCAGT
ACTGACACTTTACACAGATCCCATGGGATCTGAGAAGGTGACTGAGATGTACCAGTTCAAATTC
AAATACACGAAAGAAGGAGCCACTATGGATTTTGACAGTCATAGCAGCAGTACAAGCTTTGAAA
GTGGAACAAACAATGAAGATATTAAGAAAGCCAGTGTTCTACTGATCCGTAAATTGTATATACT
GATGCAGGACCTTGAGCCACTTCCTAATAATGTTGTACTTACTATGAAACTCCACTACTATAAT
GCAGTGACCCCACATGATTACCAACCCCTCGGTTTTAAAGAAGGGGTAAATTCACACTTCCTGC
TGTTTGACAAGGAGCCTATCAACGTGCAAGTGGGATTTGTCTCCACTGGCTTTCATAGCATGAA
AGTAAAAGTCATGACAGAGGCTACAAAAGTGATTGATTTGGAGAACAATCTGTTTCGGGAGAAC
AGCACTACTGAGATCGCCCATCAGGGTCTAGACTGTGATGAGGAAGAAGAATGCAATGACCATG
GACTTCGGCAGAGACAGAGCCCCAGCAGCCTCCACCCGTCCCCTCGTGTCGGCCTTGCTCACCC
ACGGATGAGTCAGTTGGAATGTTTGGACATCCCAGCTCAGCGGCTGTGGTACCAGGAGCTGTCA
GGAGGCGGGAATGCAGAGAATGTGGCTCACTGTGCTCCCGCCCGCCCAGGCTGAATCCGCAGAG
AGGTT

hide sequence

RefSeq Acc Id:

XM_017028622 ⟹ XP_016884111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,464 - 30,207,456 (+)	NCBI

Sequence:

show sequence

GAGGTCTCGGCCCAGAGAGGGCACTCGGGCGTTGTTAGTTCTGTCTTTATGTCAAAAAACAATT
TTTTTTTCTTTTCTTATTACTTAAGGCTTTAAGTTGGATTTGAAAGTATCATATTTCGTGAGGG
CCTAAAGTACTGTGAAGAGAATCGGGAGGGCAGGGGGCTGAGGAGGAAGGCAAAAGGGAGGCGA
TTTCCCCCAGAACTGGACAGAGAGCACCCAGGTTGGACTTGTTGAAATAATCCTGATACATTCC
TACAATGGCCACTGCTCAGCTTTCTCACTGCATCACAATACACAAGGCTTCTAAGGAAACAGTT
TTCCCATCCCAAATCACTAATGAGCATGAGTCATTGAAAATGGTGAAGAAACTTTTTGCTACTT
CCATCTCATGTATAACATACCTAAGGGGCCTGTTTCCAGAGAGCTCTTATGGAGAACGCCATTT
GGATGACCTCAGTTTAAAAATCCTCCGAGAAGATAAAAAATGTCCCGGGTCACTGCATATTATC
AGATGGATTCAAGGTTGTTTTGATGCTTTGGAAAAGAGATACCTACGTATGGCAGTACTGACAC
TTTACACAGATCCCATGGGATCTGAGAAGGTGACTGAGATGTACCAGTTCAAATTCAAATACAC
GAAAGAAGGAGCCACTATGGATTTTGACAGTCATAGCAGCAGTACAAGCTTTGAAAGTGGAACA
AACAATGAAGATATTAAGAAAGCCAGTGTTCTACTGATCCGTAAATTGTATATACTGATGCAGG
ACCTTGAGCCACTTCCTAATAATGTTGTACTTACTATGAAACTCCACTACTATAATGCAGTGAC
CCCACATGATTACCAACCCCTCGGTTTTAAAGAAGGGGTAAATTCACACTTCCTGCTGTTTGAC
AAGGAGCCTATCAACGTGCAAGTGGGATTTGTCTCCACTGGCTTTCATAGCATGAAAGTAAAAG
TCATGACAGAGGCTACAAAAGTGATTGATTTGGAGAACAATCTGTTTCGGGAGAACAGCACTAC
TGAGATCGCCCATCAGGGTCTAGACTGTGATGAGGAAGAAGAATGCAATGACCATGGACTTCGG
CAGAGACAGAGCCCCAGCAGCCTCCACCCGTCCCCTCGTGTCGGCCTTGCTCACCCACGGATGA
GTCAGTTGGAATGTTTGGACATCCCAGCTCAGCGGCTGTGGTACCAGGAGCTGTCAGGAGGCGG
GAATGCAGAGAATGTGGCTCACTGTGCTCCCGCCCGCCCAGGCTGAATCCGCAGAGAGGTT

hide sequence

RefSeq Acc Id:

XM_017028625 ⟹ XP_016884114

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,098,905 - 30,207,456 (+)	NCBI

Sequence:

show sequence

GAAGAAACTTTTTGCTACTTCCATCTCATGTATAACATACCTAAGGGGCCTGTTTCCAGAGAGC
TCTTATGGAGAACGCCATTTGGATGACCTCAGTTTAAAAATCCTCCGAGAAGATAAAAAATGTC
CCGGGTCACTGCATATTATCAGATGAAGGTGACTGAGATGTACCAGTTCAAATTCAAATACACG
AAAGAAGGAGCCACTATGGATTTTGACAGTCATAGCAGCAGTACAAGCTTTGAAAGTGGAACAA
ACAATGAAGATATTAAGAAAGCCAGTGTTCTACTGATCCGTAAATTGTATATACTGATGCAGGA
CCTTGAGCCACTTCCTAATAATGTTGTACTTACTATGAAACTCCACTACTATAATGCAGTGACC
CCACATGATTACCAACCCCTCGGTTTTAAAGAAGGGGTAAATTCACACTTCCTGCTGTTTGACA
AGGAGCCTATCAACGTGCAAGTGGGATTTGTCTCCACTGGCTTTCATAGCATGAAAGTAAAAGT
CATGACAGAGGCTACAAAAGTGATTGATTTGGAGAACAATCTGTTTCGGGAGAACAGCACTACT
GAGATCGCCCATCAGGGTCTAGACTGTGATGAGGAAGAAGAATGCAATGACCATGGACTTCGGC
AGAGACAGAGCCCCAGCAGCCTCCACCCGTCCCCTCGTGTCGGCCTTGCTCACCCACGGATGAG
TCAGTTGGAATGTTTGGACATCCCAGCTCAGCGGCTGTGGTACCAGGAGCTGTCAGGAGGCGGG
AATGCAGAGAATGTGGCTCACTGTGCTCCCGCCCGCCCAGGCTGAATCCGCAGAGAGGTT

hide sequence

RefSeq Acc Id:

XM_017028626 ⟹ XP_016884115

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,118,756 - 30,207,456 (+)	NCBI

Sequence:

show sequence

AATAATAGTATCTTTCATCTAATTTATTTTTAGCATGGAGGAGAAAAACTAGGTTGTCTTTATA
TTTGGAAATATTACTCTTGAATAATGTGATACTGTGAAACAAACAGCTATATAGGAAGTACAGT
AGATATACAGTGAAAATGTTCCTTACTTATGATCAGTCATAGCAGCAGTACAAGCTTTGAAAGT
GGAACAAACAATGAAGATATTAAGAAAGCCAGTGTTCTACTGATCCGTAAATTGTATATACTGA
TGCAGGACCTTGAGCCACTTCCTAATAATGTTGTACTTACTATGAAACTCCACTACTATAATGC
AGTGACCCCACATGATTACCAACCCCTCGGTTTTAAAGAAGGGGTAAATTCACACTTCCTGCTG
TTTGACAAGGAGCCTATCAACGTGCAAGTGGGATTTGTCTCCACTGGCTTTCATAGCATGAAAG
TAAAAGTCATGACAGAGGCTACAAAAGTGATTGATTTGGAGAACAATCTGTTTCGGGAGAACAG
CACTACTGAGATCGCCCATCAGGGTCTAGACTGTGATGAGGAAGAAGAATGCAATGACCATGGA
CTTCGGCAGAGACAGAGCCCCAGCAGCCTCCACCCGTCCCCTCGTGTCGGCCTTGCTCACCCAC
GGATGAGTCAGTTGGAATGTTTGGACATCCCAGCTCAGCGGCTGTGGTACCAGGAGCTGTCAGG
AGGCGGGAATGCAGAGAATGTGGCTCACTGTGCTCCCGCCCGCCCAGGCTGAATCCGCAGAGAG
GTTTGGAAGGTGAATGACACAATGTTTGTCAAGGGTTTGGGACGACAGGTGCATGTGAAGATGA
GGACAAAGACTGATTCTTTTCTTGGGGCTGCCAGCACAGTTTCGCATCCCTCCCACACATGTCC
GCATTCCAGGCCCAGACACTCCGTGCCCTGGGCTCCTATGAAGGGCAAGAAACCACTGATTAGG
AAGCAAGAAGAAGAAAAAGAAATGTCCCAGGCTCTTAAAAGAAAGAGTGTTTGA

hide sequence

RefSeq Acc Id:

XM_047441154 ⟹ XP_047297110

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,077,732 - 30,207,456 (+)	NCBI

RefSeq Acc Id:

XM_047441155 ⟹ XP_047297111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,464 - 30,207,456 (+)	NCBI

RefSeq Acc Id:

XM_047441156 ⟹ XP_047297112

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,077,803 - 30,177,075 (+)	NCBI

RefSeq Acc Id:

XM_047441157 ⟹ XP_047297113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,098,905 - 30,207,456 (+)	NCBI

RefSeq Acc Id:

XM_054325131 ⟹ XP_054181106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,543,816 - 30,670,783 (+)	NCBI

RefSeq Acc Id:

XM_054325132 ⟹ XP_054181107

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,544,566 - 30,670,783 (+)	NCBI

RefSeq Acc Id:

XM_054325133 ⟹ XP_054181108

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,541,076 - 30,670,783 (+)	NCBI

RefSeq Acc Id:

XM_054325134 ⟹ XP_054181109

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,543,863 - 30,670,783 (+)	NCBI

RefSeq Acc Id:

XM_054325135 ⟹ XP_054181110

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,541,147 - 30,640,412 (+)	NCBI

RefSeq Acc Id:

XM_054325136 ⟹ XP_054181111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,562,258 - 30,670,783 (+)	NCBI

RefSeq Acc Id:

XM_054325137 ⟹ XP_054181112

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,562,258 - 30,670,783 (+)	NCBI

RefSeq Acc Id:

XM_054325138 ⟹ XP_054181113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	30,582,106 - 30,670,783 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001316386	(Get FASTA)	NCBI Sequence Viewer
	NP_001316387	(Get FASTA)	NCBI Sequence Viewer
	NP_689723	(Get FASTA)	NCBI Sequence Viewer
	XP_011528216	(Get FASTA)	NCBI Sequence Viewer
	XP_016884111	(Get FASTA)	NCBI Sequence Viewer
	XP_016884114	(Get FASTA)	NCBI Sequence Viewer
	XP_016884115	(Get FASTA)	NCBI Sequence Viewer
	XP_047297110	(Get FASTA)	NCBI Sequence Viewer
	XP_047297111	(Get FASTA)	NCBI Sequence Viewer
	XP_047297112	(Get FASTA)	NCBI Sequence Viewer
	XP_047297113	(Get FASTA)	NCBI Sequence Viewer
	XP_054181106	(Get FASTA)	NCBI Sequence Viewer
	XP_054181107	(Get FASTA)	NCBI Sequence Viewer
	XP_054181108	(Get FASTA)	NCBI Sequence Viewer
	XP_054181109	(Get FASTA)	NCBI Sequence Viewer
	XP_054181110	(Get FASTA)	NCBI Sequence Viewer
	XP_054181111	(Get FASTA)	NCBI Sequence Viewer
	XP_054181112	(Get FASTA)	NCBI Sequence Viewer
	XP_054181113	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH30013	(Get FASTA)	NCBI Sequence Viewer
	BAC05388	(Get FASTA)	NCBI Sequence Viewer
	CAG30227	(Get FASTA)	NCBI Sequence Viewer
	CAN59692	(Get FASTA)	NCBI Sequence Viewer
	EAW59859	(Get FASTA)	NCBI Sequence Viewer
	EAW59860	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000336984
	ENSP00000336984.6
	ENSP00000385055
	ENSP00000385055.1
	ENSP00000393415.1
GenBank Protein	Q8N7B1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_689723 ⟸ NM_152510
- Peptide Label:	isoform a
- UniProtKB:	B5MEB2 (UniProtKB/Swiss-Prot), Q8NHR2 (UniProtKB/Swiss-Prot), Q8N7B1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLD DLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTK EGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTP HDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTE IAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK hide sequence

RefSeq Acc Id:

XP_011528216 ⟸ XM_011529914

- Peptide Label:

isoform X1

- Sequence:

show sequence

MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLD
DLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTK
EGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTP
HDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTE
IAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG

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RefSeq Acc Id:

XP_016884111 ⟸ XM_017028622

- Peptide Label:

isoform X1

- Sequence:

show sequence

MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLD
DLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTK
EGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTP
HDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTE
IAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG

hide sequence

RefSeq Acc Id:

XP_016884114 ⟸ XM_017028625

- Peptide Label:

isoform X4

- Sequence:

show sequence

MSRVTAYYQMKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILM
QDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKV
KVMTEATKVIDLENNLFRENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPR
MSQLECLDIPAQRLWYQELSGGGNAENVAHCAPARPG

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RefSeq Acc Id:

XP_016884115 ⟸ XM_017028626

- Peptide Label:

isoform X5

- Sequence:

show sequence

MISHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPL
GFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTEIAHQGL
DCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGNAENVAH
CAPARPG

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RefSeq Acc Id:	NP_001316386 ⟸ NM_001329457
- Peptide Label:	isoform a
- UniProtKB:	B5MEB2 (UniProtKB/Swiss-Prot), Q8NHR2 (UniProtKB/Swiss-Prot), Q8N7B1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLD DLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTK EGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTP HDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTE IAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK hide sequence

RefSeq Acc Id:	NP_001316387 ⟸ NM_001329458
- Peptide Label:	isoform b
- UniProtKB:	Q8N7B1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSRVTAYYQMLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNED IKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPI NVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFV CSQQSSECSRKKRKVSEPVKVFIPNRK hide sequence

Ensembl Acc Id:

ENSP00000393415 ⟸ ENST00000450612

Ensembl Acc Id:

ENSP00000336984 ⟸ ENST00000336726

Ensembl Acc Id:

ENSP00000385055 ⟸ ENST00000403975

RefSeq Acc Id:	XP_047297110 ⟸ XM_047441154
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047297112 ⟸ XM_047441156
- Peptide Label:	isoform X2
- UniProtKB:	Q8N7B1 (UniProtKB/Swiss-Prot), B5MEB2 (UniProtKB/Swiss-Prot), Q8NHR2 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047297111 ⟸ XM_047441155
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047297113 ⟸ XM_047441157
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054181108 ⟸ XM_054325133
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054181110 ⟸ XM_054325135
- Peptide Label:	isoform X2
- UniProtKB:	Q8N7B1 (UniProtKB/Swiss-Prot), B5MEB2 (UniProtKB/Swiss-Prot), Q8NHR2 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054181106 ⟸ XM_054325131
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054181109 ⟸ XM_054325134
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054181107 ⟸ XM_054325132
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054181111 ⟸ XM_054325136
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054181112 ⟸ XM_054325137
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054181113 ⟸ XM_054325138
- Peptide Label:	isoform X5

Protein Domains

HORMA

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N7B1-F1-model_v2	AlphaFold	Q8N7B1	1-307	view protein structure

Promoters

RGD ID:

13603662

Promoter ID:

EPDNEW_H28014

Type:

initiation region

Name:

HORMAD2_1

Description:

HORMA domain containing 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	30,080,017 - 30,080,077	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28383	AgrOrtholog
COSMIC	HORMAD2	COSMIC
Ensembl Genes	ENSG00000176635	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000336726	ENTREZGENE
	ENST00000336726.11	UniProtKB/Swiss-Prot
	ENST00000403975	ENTREZGENE
	ENST00000403975.1	UniProtKB/Swiss-Prot
	ENST00000450612.5	UniProtKB/TrEMBL
Gene3D-CATH	3.30.900.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000176635	GTEx
HGNC ID	HGNC:28383	ENTREZGENE
Human Proteome Map	HORMAD2	Human Proteome Map
InterPro	HORMA_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HORMA_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HORMA_MeioticProgression	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:150280	UniProtKB/Swiss-Prot
NCBI Gene	150280	ENTREZGENE
OMIM	618842	OMIM
PANTHER	HORMA DOMAIN-CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HORMA DOMAIN-CONTAINING PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	HORMA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134889862	PharmGKB
PROSITE	HORMA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF56019	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B5MEB2	ENTREZGENE
	F8WES9_HUMAN	UniProtKB/TrEMBL
	HORM2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q8NHR2	ENTREZGENE
UniProt Secondary	B5MEB2	UniProtKB/Swiss-Prot
	Q8NHR2	UniProtKB/Swiss-Prot

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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