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Gene: Foxd4 (forkhead box D4) Heterocephalus glaber

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Symbol:

Foxd4

Name:

forkhead box D4

RGD ID:

18921104

Description:

ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription factor activity (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN anatomical structure morphogenesis (inferred); cell differentiation (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH chromosome 9p deletion syndrome (ortholog); schizophrenia (ortholog); FOUND IN nucleus (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

forkhead box protein D4-like 1

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 ...
Homo sapiens (human):	FOXD4 (forkhead box D4)	NCBI	Ortholog
Mus musculus (house mouse):	Foxd4 (forkhead box D4)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Rattus norvegicus (Norway rat):	Foxd4 (forkhead box D4)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Foxd4 (forkhead box D4)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	FOXD4 (forkhead box D4)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Foxd4 (forkhead box D4)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	FOXD4 (forkhead box D4)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline

Latest Assembly:

HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624736	4,872,270 - 4,874,153 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Foxd4	Naked Mole-Rat	chromosome 9p deletion syndrome		ISO	RGD:1346778	8554872	ClinVar Annotator: match by term: Chromosome 9p deletion syndrome	ClinVar	PMID:25741868
Foxd4	Naked Mole-Rat	schizophrenia		ISO	RGD:1346778	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Foxd4	Naked Mole-Rat	anatomical structure morphogenesis	involved_in	IEA	PANTHER:PTN007542113	150520179		TreeGrafter	GO_REF:0000118
Foxd4	Naked Mole-Rat	cell differentiation	involved_in	IEA	PANTHER:PTN007542113	150520179		TreeGrafter	GO_REF:0000118
Foxd4	Naked Mole-Rat	regulation of DNA-templated transcription	involved_in	IEA	InterPro:IPR001766\|InterPro:IPR018122\|InterPro:IPR030456	150520179		InterPro	GO_REF:0000002
Foxd4	Naked Mole-Rat	regulation of transcription by RNA polymerase II	involved_in	IEA	PANTHER:PTN007542113	150520179		TreeGrafter	GO_REF:0000118

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Foxd4	Naked Mole-Rat	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
Foxd4	Naked Mole-Rat	nucleus	located_in	IEA	UniRule:UR000413741	150520179		UniProt	GO_REF:0000104
Foxd4	Naked Mole-Rat	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Foxd4	Naked Mole-Rat	DNA binding	enables	IEA	UniRule:UR000413741	150520179		UniProt	GO_REF:0000104
Foxd4	Naked Mole-Rat	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
Foxd4	Naked Mole-Rat	DNA-binding transcription factor activity	enables	IEA	InterPro:IPR001766\|InterPro:IPR018122\|InterPro:IPR030456	150520179		InterPro	GO_REF:0000002
Foxd4	Naked Mole-Rat	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IEA	PANTHER:PTN007542113	150520179		TreeGrafter	GO_REF:0000118
Foxd4	Naked Mole-Rat	protein binding	enables	ISO	UniProtKB:P59991\|UniProtKB:P60371\|UniProtKB:Q99750\|UniProtKB:Q9ULX6	9068941	PMID:32296183	IntAct	PMID:32296183
Foxd4	Naked Mole-Rat	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IEA	PANTHER:PTN007542113	150520179		TreeGrafter	GO_REF:0000118
Foxd4	Naked Mole-Rat	sequence-specific DNA binding	enables	IEA	InterPro:IPR001766\|InterPro:IPR018122\|InterPro:IPR030456	150520179		InterPro	GO_REF:0000002

PMID:30032202

Foxd4
(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 1.0	NW_004624736	4,872,270 - 4,874,153 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

FOXD4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	116,231 - 118,417 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	116,231 - 118,417 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	116,231 - 118,417 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	106,234 - 108,419 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	106,055 - 108,204	NCBI
Cytogenetic Map	9	p24.3	NCBI
HuRef	9	58,001 - 60,188 (-)	NCBI		HuRef
CHM1_1	9	116,562 - 118,749 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	110,353 - 112,540 (-)	NCBI		T2T-CHM13v2.0

Foxd4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	24,876,307 - 24,878,380 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	24,876,600 - 24,878,561 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	24,898,943 - 24,901,016 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	24,899,236 - 24,901,197 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	24,973,455 - 24,975,799 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	24,966,062 - 24,968,406 (-)	NCBI		MGSCv36	mm8
Celera	19	25,674,165 - 25,676,509 (-)	NCBI		Celera
Cytogenetic Map	19	B	NCBI
cM Map	19	19.86	NCBI

Foxd4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	231,983,872 - 231,985,565 (-)	NCBI		GRCr8
mRatBN7.2	1	222,557,494 - 222,559,189 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	222,557,360 - 222,559,159 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	1	242,808,886 - 242,810,186 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	242,808,965 - 242,810,186 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	250,082,104 - 250,083,404 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	228,348,202 - 228,349,654 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	228,512,922 - 228,513,225 (-)	NCBI
Celera	1	219,761,312 - 219,762,612 (-)	NCBI		Celera
Cytogenetic Map	1	q51	NCBI

Foxd4
(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	NW_004955434	4,723,198 - 4,725,013 (-)	NCBI	ChiLan1.0	ChiLan1.0

FOXD4
(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	11	124,531,633 - 124,558,349 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	124,538,385 - 124,560,226 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	129,258,299 - 129,277,210 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

Foxd4
(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_024404947	136,512,355 - 136,514,796 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936503	4,658,802 - 4,660,203 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FOXD4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	1	221,577,685 - 221,580,452 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	247,834,116 - 247,835,450 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003937.2(KYNU):c.373+4412G>T	single nucleotide variant	Lung cancer [RCV000091497]	Chr2:142932153 [GRCh38] Chr2:143689722 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	copy number loss	See cases [RCV000051018]	Chr2:140186521..146528244 [GRCh38] Chr2:140944090..147285812 [GRCh37] Chr2:140660560..147002282 [NCBI36] Chr2:2q22.1-22.3	pathogenic
GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	copy number loss	See cases [RCV000054086]	Chr2:141666537..147845662 [GRCh38] Chr2:142424106..148603231 [GRCh37] Chr2:142140576..148319701 [NCBI36] Chr2:2q22.2-22.3	pathogenic
NM_003937.2(KYNU):c.169+1G>A	single nucleotide variant	Malignant melanoma [RCV000060344]	Chr2:142885537 [GRCh38] Chr2:143643106 [GRCh37] Chr2:143359576 [NCBI36] Chr2:2q22.2	not provided
NM_003937.3(KYNU):c.592A>G (p.Thr198Ala)	single nucleotide variant	Hydroxykynureninuria [RCV000148021]	Chr2:142960633 [GRCh38] Chr2:143718202 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic\|not provided
NM_003937.3(KYNU):c.563G>A (p.Arg188Gln)	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003387772]\|not provided [RCV000148022]	Chr2:142957696 [GRCh38] Chr2:143715265 [GRCh37] Chr2:2q22.2	uncertain significance\|not provided
GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	copy number loss	See cases [RCV000137506]	Chr2:136937358..146681810 [GRCh38] Chr2:137694928..147439378 [GRCh37] Chr2:137411398..147155848 [NCBI36] Chr2:2q22.1-22.3	pathogenic
GRCh38/hg38 2q22.1-22.2(chr2:140659197-142948096)x3	copy number gain	See cases [RCV000137664]	Chr2:140659197..142948096 [GRCh38] Chr2:141416766..143705665 [GRCh37] Chr2:141133236..143422135 [NCBI36] Chr2:2q22.1-22.2	uncertain significance
GRCh38/hg38 2q22.2(chr2:142197989-143208649)x3	copy number gain	See cases [RCV000143645]	Chr2:142197989..143208649 [GRCh38] Chr2:142955558..143966218 [GRCh37] Chr2:142672028..143682688 [NCBI36] Chr2:2q22.2	likely benign\|uncertain significance
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)x1	copy number loss	See cases [RCV000449099]	Chr2:138578298..144874187 [GRCh37] Chr2:2q22.1-22.3	likely pathogenic
Single allele	duplication	MBD5 associated neurodevelopmental disorder [RCV000454618]	Chr2:140621941..149324662 [GRCh37] Chr2:2q22.1-23.1	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)	single nucleotide variant	Congenital NAD deficiency disorder [RCV000496184]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505808]\|not provided [RCV000522905]	Chr2:142956235 [GRCh38] Chr2:143713804 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)	deletion	Congenital NAD deficiency disorder [RCV000496114]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505812]\|not provided [RCV000520521]	Chr2:143040430..143040436 [GRCh38] Chr2:143797999..143798005 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.170-1G>T	single nucleotide variant	Congenital NAD deficiency disorder [RCV000496147]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505804]	Chr2:142918608 [GRCh38] Chr2:143676177 [GRCh37] Chr2:2q22.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003937.3(KYNU):c.1073G>A (p.Arg358Gln)	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV005249495]\|not specified [RCV004330898]	Chr2:143040459 [GRCh38] Chr2:143798028 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436]	Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3	drug response
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003937.3(KYNU):c.759T>C (p.His253=)	single nucleotide variant	not provided [RCV000894540]	Chr2:142985113 [GRCh38] Chr2:143742682 [GRCh37] Chr2:2q22.2	benign
NM_003937.3(KYNU):c.303T>C (p.Gly101=)	single nucleotide variant	not provided [RCV000894981]	Chr2:142927671 [GRCh38] Chr2:143685240 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.585G>A (p.Gly195=)	single nucleotide variant	not provided [RCV000883675]	Chr2:142960626 [GRCh38] Chr2:143718195 [GRCh37] Chr2:2q22.2	benign
NM_003937.3(KYNU):c.732T>C (p.Gly244=)	single nucleotide variant	not provided [RCV000915143]	Chr2:142985086 [GRCh38] Chr2:143742655 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.291-7A>G	single nucleotide variant	not provided [RCV000904248]\|not specified [RCV003479242]	Chr2:142927652 [GRCh38] Chr2:143685221 [GRCh37] Chr2:2q22.2	likely benign\|uncertain significance
NM_003937.3(KYNU):c.74C>T (p.Thr25Met)	single nucleotide variant	not provided [RCV000972582]	Chr2:142885441 [GRCh38] Chr2:143643010 [GRCh37] Chr2:2q22.2	benign
NM_003937.3(KYNU):c.123C>T (p.His41=)	single nucleotide variant	not provided [RCV000966826]	Chr2:142885490 [GRCh38] Chr2:143643059 [GRCh37] Chr2:2q22.2	benign
NM_003937.3(KYNU):c.729+9G>A	single nucleotide variant	not provided [RCV000883088]	Chr2:142960779 [GRCh38] Chr2:143718348 [GRCh37] Chr2:2q22.2	benign
NM_003937.3(KYNU):c.828+9G>A	single nucleotide variant	not provided [RCV000974004]	Chr2:142985191 [GRCh38] Chr2:143742760 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.195T>C (p.Asp65=)	single nucleotide variant	not provided [RCV000936487]	Chr2:142918634 [GRCh38] Chr2:143676203 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.828+8C>T	single nucleotide variant	not provided [RCV000943103]	Chr2:142985190 [GRCh38] Chr2:143742759 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.60C>T (p.Leu20=)	single nucleotide variant	KYNU-related disorder [RCV004553522]\|not provided [RCV000982675]	Chr2:142885427 [GRCh38] Chr2:143642996 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.1260A>G (p.Lys420=)	single nucleotide variant	not provided [RCV000982501]	Chr2:143040646 [GRCh38] Chr2:143798215 [GRCh37] Chr2:2q22.2	likely benign
GRCh37/hg19 2q22.2-22.3(chr2:143192287-144325954)x3	copy number gain	not provided [RCV000849947]	Chr2:143192287..144325954 [GRCh37] Chr2:2q22.2-22.3	uncertain significance
GRCh37/hg19 2q22.2(chr2:143290896-143804910)x3	copy number gain	not provided [RCV000847135]	Chr2:143290896..143804910 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.26C>T (p.Pro9Leu)	single nucleotide variant	not specified [RCV004289504]	Chr2:142885393 [GRCh38] Chr2:143642962 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.121C>T (p.His41Tyr)	single nucleotide variant	not provided [RCV000901517]	Chr2:142885488 [GRCh38] Chr2:143643057 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.1047T>C (p.Phe349=)	single nucleotide variant	KYNU-related disorder [RCV004740491]\|not provided [RCV000889456]	Chr2:143040433 [GRCh38] Chr2:143798002 [GRCh37] Chr2:2q22.2	benign\|likely benign
GRCh37/hg19 2q22.2(chr2:142738538-143643346)x3	copy number gain	not provided [RCV001005325]	Chr2:142738538..143643346 [GRCh37] Chr2:2q22.2	uncertain significance
Single allele	deletion	Mowat-Wilson syndrome [RCV001250753]	Chr2:137639637..146827604 [GRCh37] Chr2:2q22.1-22.3	pathogenic
NC_000002.12:g.142877008_142961693del	deletion	Catel-Manzke syndrome [RCV001256672]	Chr2:142877008..142961693 [GRCh38] Chr2:143634577..143719262 [GRCh37] Chr2:2q22.2	pathogenic
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	copy number gain	Global developmental delay [RCV001352659]	Chr2:136473383..152727396 [GRCh37] Chr2:2q21.3-23.3	pathogenic
NM_003937.3(KYNU):c.788A>G (p.His263Arg)	single nucleotide variant	Congenital NAD deficiency disorder [RCV001391062]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883466]	Chr2:142985142 [GRCh38] Chr2:143742711 [GRCh37] Chr2:2q22.2	pathogenic
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys)	single nucleotide variant	Congenital NAD deficiency disorder [RCV001391063]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883467]	Chr2:142960657 [GRCh38] Chr2:143718226 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.361_363del (p.Lys121del)	deletion	Congenital NAD deficiency disorder [RCV001391064]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883468]	Chr2:142927728..142927730 [GRCh38] Chr2:143685297..143685299 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg)	single nucleotide variant	Congenital NAD deficiency disorder [RCV001391065]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883469]	Chr2:143033315 [GRCh38] Chr2:143790884 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.489del (p.Ala164fs)	deletion	Congenital NAD deficiency disorder [RCV001391066]\|not provided [RCV004727068]	Chr2:142956254 [GRCh38] Chr2:143713823 [GRCh37] Chr2:2q22.2	pathogenic
NM_003937.3(KYNU):c.955+26C>T	single nucleotide variant	Hydroxykynureninuria [RCV001731086]\|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001731087]\|not provided [RCV004709134]	Chr2:143029705 [GRCh38] Chr2:143787274 [GRCh37] Chr2:2q22.2	benign
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)	duplication	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003326157]\|not provided [RCV001782359]	Chr2:142918694..142918695 [GRCh38] Chr2:143676263..143676264 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.902+1G>A	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001808860]	Chr2:142986022 [GRCh38] Chr2:143743591 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3(KYNU):c.455C>T (p.Thr152Met)	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001808094]\|not specified [RCV004040928]	Chr2:142956222 [GRCh38] Chr2:143713791 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	copy number gain	not provided [RCV001834428]	Chr2:142409401..152680804 [GRCh37] Chr2:2q22.2-23.3	pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	copy number loss	not provided [RCV001832883]	Chr2:122699106..143799629 [GRCh37] Chr2:2q14.3-22.2	pathogenic
GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	copy number loss	not specified [RCV002053238]	Chr2:143258712..152867819 [GRCh37] Chr2:2q22.2-23.3	pathogenic
GRCh37/hg19 2q22.2(chr2:143440277-143686832)	copy number gain	not specified [RCV002053239]	Chr2:143440277..143686832 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	copy number gain	not provided [RCV001832896]	Chr2:111484468..146333604 [GRCh37] Chr2:2q13-22.3	pathogenic
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)	copy number loss	not specified [RCV002053235]	Chr2:138578298..144874187 [GRCh37] Chr2:2q22.1-22.3	likely pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	copy number gain	2q13q22.3 microduplication syndrome [RCV002226436]	Chr2:112475655..145691999 [GRCh37] Chr2:2q13-22.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003937.3(KYNU):c.890C>T (p.Thr297Met)	single nucleotide variant	not provided [RCV004776696]	Chr2:142986009 [GRCh38] Chr2:143743578 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.773T>C (p.Val258Ala)	single nucleotide variant	Hydroxykynureninuria [RCV002249093]	Chr2:142985127 [GRCh38] Chr2:143742696 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3(KYNU):c.374-2A>G	single nucleotide variant	not provided [RCV002275699]	Chr2:142954808 [GRCh38] Chr2:143712377 [GRCh37] Chr2:2q22.2	not provided
NM_003937.3(KYNU):c.374-433_435+369del	deletion	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV002265065]	Chr2:142954376..142955239 [GRCh38] Chr2:143711945..143712808 [GRCh37] Chr2:2q22.2	pathogenic
NM_003937.3(KYNU):c.199A>G (p.Asn67Asp)	single nucleotide variant	not specified [RCV004307616]	Chr2:142918638 [GRCh38] Chr2:143676207 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh37/hg19 2q22.2(chr2:143610406-143881574)x3	copy number gain	not provided [RCV002474638]	Chr2:143610406..143881574 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.903-2A>C	single nucleotide variant	not provided [RCV002614948]	Chr2:143029625 [GRCh38] Chr2:143787194 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3(KYNU):c.574C>G (p.Pro192Ala)	single nucleotide variant	not specified [RCV004201495]	Chr2:142957707 [GRCh38] Chr2:143715276 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.967del (p.Ile323fs)	deletion	not provided [RCV002640483]	Chr2:143033246 [GRCh38] Chr2:143790815 [GRCh37] Chr2:2q22.2	pathogenic
NM_003937.3(KYNU):c.601A>G (p.Ile201Val)	single nucleotide variant	not specified [RCV004145850]	Chr2:142960642 [GRCh38] Chr2:143718211 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.127A>G (p.Arg43Gly)	single nucleotide variant	not specified [RCV004134099]	Chr2:142885494 [GRCh38] Chr2:143643063 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.562C>T (p.Arg188Trp)	single nucleotide variant	not specified [RCV004186803]	Chr2:142957695 [GRCh38] Chr2:143715264 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.142A>T (p.Ile48Phe)	single nucleotide variant	not specified [RCV004124440]	Chr2:142885509 [GRCh38] Chr2:143643078 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.656T>C (p.Leu219Pro)	single nucleotide variant	not provided [RCV004778051]	Chr2:142960697 [GRCh38] Chr2:143718266 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.845C>T (p.Ala282Val)	single nucleotide variant	not specified [RCV004270364]	Chr2:142985964 [GRCh38] Chr2:143743533 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.85G>A (p.Val29Met)	single nucleotide variant	not specified [RCV004273063]	Chr2:142885452 [GRCh38] Chr2:143643021 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1168A>G (p.Ile390Val)	single nucleotide variant	not specified [RCV004306687]	Chr2:143040554 [GRCh38] Chr2:143798123 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.865T>C (p.Phe289Leu)	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003326203]	Chr2:142985984 [GRCh38] Chr2:143743553 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.510T>A (p.Tyr170Ter)	single nucleotide variant	KYNU-related disorder [RCV003335880]	Chr2:142957643 [GRCh38] Chr2:143715212 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3(KYNU):c.825C>A (p.Tyr275Ter)	single nucleotide variant	KYNU-related disorder [RCV003335881]	Chr2:142985179 [GRCh38] Chr2:143742748 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3(KYNU):c.518A>G (p.Glu173Gly)	single nucleotide variant	not specified [RCV004335772]	Chr2:142957651 [GRCh38] Chr2:143715220 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.735T>G (p.Cys245Trp)	single nucleotide variant	not specified [RCV003479743]	Chr2:142985089 [GRCh38] Chr2:143742658 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.373_373+3del	deletion	KYNU-related disorder [RCV004550769]	Chr2:142927738..142927741 [GRCh38] Chr2:143685307..143685310 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3:c.788A>G	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882757]		pathogenic
NM_003937.3:c.361_363del	deletion	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882759]		pathogenic
NM_003937.3:c.1035T>A	variation	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882760]		pathogenic
NM_003937.3(KYNU):c.1041G>A (p.Glu347=)	single nucleotide variant	not provided [RCV003487982]	Chr2:143033321 [GRCh38] Chr2:143790890 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3:c.616G>A	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882758]		pathogenic
GRCh37/hg19 2q22.2(chr2:143627015-143881574)x3	copy number gain	not specified [RCV003986143]	Chr2:143627015..143881574 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	copy number gain	not specified [RCV003986337]	Chr2:134589311..149951291 [GRCh37] Chr2:2q21.2-23.2	likely pathogenic
NM_003937.3(KYNU):c.1303G>A (p.Val435Met)	single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003990255]	Chr2:143042077 [GRCh38] Chr2:143799646 [GRCh37] Chr2:2q22.2	uncertain significance
GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1	copy number loss	not provided [RCV003885493]	Chr2:142681355..146293674 [GRCh37] Chr2:2q22.2-22.3	pathogenic
NM_003937.3(KYNU):c.1178C>T (p.Pro393Leu)	single nucleotide variant	not specified [RCV004407038]	Chr2:143040564 [GRCh38] Chr2:143798133 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1207C>A (p.Leu403Ile)	single nucleotide variant	not specified [RCV004407039]	Chr2:143040593 [GRCh38] Chr2:143798162 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1232A>G (p.Asn411Ser)	single nucleotide variant	not specified [RCV004407040]	Chr2:143040618 [GRCh38] Chr2:143798187 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.170T>C (p.Val57Ala)	single nucleotide variant	not specified [RCV004407042]	Chr2:142918609 [GRCh38] Chr2:143676178 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.44G>A (p.Arg15His)	single nucleotide variant	not specified [RCV004407043]	Chr2:142885411 [GRCh38] Chr2:143642980 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.650T>C (p.Val217Ala)	single nucleotide variant	not provided [RCV004780709]\|not specified [RCV004407044]	Chr2:142960691 [GRCh38] Chr2:143718260 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.725C>T (p.Ala242Val)	single nucleotide variant	not specified [RCV004407045]	Chr2:142960766 [GRCh38] Chr2:143718335 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.731G>T (p.Gly244Val)	single nucleotide variant	not specified [RCV004407046]	Chr2:142985085 [GRCh38] Chr2:143742654 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.764T>C (p.Val255Ala)	single nucleotide variant	not specified [RCV004407047]	Chr2:142985118 [GRCh38] Chr2:143742687 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.946A>G (p.Met316Val)	single nucleotide variant	not specified [RCV004407048]	Chr2:143029670 [GRCh38] Chr2:143787239 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.136T>C (p.Phe46Leu)	single nucleotide variant	not specified [RCV004639802]	Chr2:142885503 [GRCh38] Chr2:143643072 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.580G>A (p.Glu194Lys)	single nucleotide variant	not specified [RCV004639800]	Chr2:142957713 [GRCh38] Chr2:143715282 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1335T>G (p.His445Gln)	single nucleotide variant	not specified [RCV004639799]	Chr2:143042109 [GRCh38] Chr2:143799678 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.818G>A (p.Cys273Tyr)	single nucleotide variant	not specified [RCV004639801]	Chr2:142985172 [GRCh38] Chr2:143742741 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.548T>C (p.Ile183Thr)	single nucleotide variant	not specified [RCV004639797]	Chr2:142957681 [GRCh38] Chr2:143715250 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1072C>T (p.Arg358Trp)	single nucleotide variant	not specified [RCV004639798]	Chr2:143040458 [GRCh38] Chr2:143798027 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.967A>C (p.Ile323Leu)	single nucleotide variant	not specified [RCV004938031]	Chr2:143033247 [GRCh38] Chr2:143790816 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.793T>A (p.Trp265Arg)	single nucleotide variant	not specified [RCV004938034]	Chr2:142985147 [GRCh38] Chr2:143742716 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.560T>G (p.Met187Arg)	single nucleotide variant	not specified [RCV004938035]	Chr2:142957693 [GRCh38] Chr2:143715262 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.737dup (p.Tyr246Ter)	duplication	KYNU-related disorder [RCV004740949]	Chr2:142985090..142985091 [GRCh38] Chr2:143742659..143742660 [GRCh37] Chr2:2q22.2	likely pathogenic
NM_003937.3(KYNU):c.-7A>T	single nucleotide variant	KYNU-related disorder [RCV004739929]	Chr2:142885361 [GRCh38] Chr2:143642930 [GRCh37] Chr2:2q22.2	likely benign
NM_003937.3(KYNU):c.299A>G (p.Tyr100Cys)	single nucleotide variant	not specified [RCV004938030]	Chr2:142927667 [GRCh38] Chr2:143685236 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1228C>T (p.Pro410Ser)	single nucleotide variant	not specified [RCV004938032]	Chr2:143040614 [GRCh38] Chr2:143798183 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.853A>G (p.Ile285Val)	single nucleotide variant	not specified [RCV004938033]	Chr2:142985972 [GRCh38] Chr2:143743541 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1273T>C (p.Cys425Arg)	single nucleotide variant	Hydroxykynureninuria [RCV005028813]	Chr2:143042047 [GRCh38] Chr2:143799616 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.643A>T (p.Ile215Phe)	single nucleotide variant	Hydroxykynureninuria [RCV005028812]	Chr2:142960684 [GRCh38] Chr2:143718253 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.758A>G (p.His253Arg)	single nucleotide variant	not specified [RCV004296767]	Chr2:142985112 [GRCh38] Chr2:143742681 [GRCh37] Chr2:2q22.2	uncertain significance
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)	single nucleotide variant	Catel-Manzke syndrome [RCV001256673]\|Congenital NAD deficiency disorder [RCV001391067]\|not provided [RCV003313200]	Chr2:143042056 [GRCh38] Chr2:143799625 [GRCh37] Chr2:2q22.2	pathogenic\|likely pathogenic
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)	single nucleotide variant	Catel-Manzke syndrome [RCV001256674]	Chr2:143033269 [GRCh38] Chr2:143790838 [GRCh37] Chr2:2q22.2	pathogenic
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser)	single nucleotide variant	Catel-Manzke syndrome [RCV001256675]	Chr2:142927694 [GRCh38] Chr2:143685263 [GRCh37] Chr2:2q22.2	pathogenic

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


RefSeq Transcripts	XM_004838192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AHKG01012247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

XM_004838192 ⟹ XP_004838249

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624736	4,872,270 - 4,874,153 (-)	NCBI


Protein RefSeqs	XP_004838249	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_004838249 ⟸ XM_004838192
- UniProtKB:	A0AAX6NVY9 (UniProtKB/TrEMBL)

Database	Acc Id	Source(s)
Gene3D-CATH	Winged helix-like DNA-binding domain superfamily/Winged helix DNA-binding domain	UniProtKB/TrEMBL
InterPro	Fork_head_dom	UniProtKB/TrEMBL
	FOX_domain-containing	UniProtKB/TrEMBL
	TF_fork_head_CS_1	UniProtKB/TrEMBL
	TF_fork_head_CS_2	UniProtKB/TrEMBL
	WH-like_DNA-bd_sf	UniProtKB/TrEMBL
	WH_DNA-bd_sf	UniProtKB/TrEMBL
NCBI Gene	Foxd4	ENTREZGENE
PANTHER	FORKHEAD BOX PROTEIN	UniProtKB/TrEMBL
	FORKHEAD BOX PROTEIN D4-LIKE 1	UniProtKB/TrEMBL
Pfam	Forkhead	UniProtKB/TrEMBL
PRINTS	FORKHEAD	UniProtKB/TrEMBL
PROSITE	FORK_HEAD_1	UniProtKB/TrEMBL
	FORK_HEAD_2	UniProtKB/TrEMBL
	FORK_HEAD_3	UniProtKB/TrEMBL
SMART	SM00339	UniProtKB/TrEMBL
Superfamily-SCOP	Winged helix' DNA-binding domain	UniProtKB/TrEMBL
UniProt	A0AAX6NVY9	ENTREZGENE, UniProtKB/TrEMBL

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar