HOXC13 (homeobox C13) - Rat Genome Database

Name: HOXC13
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: HOXC13 (homeobox C13) Homo sapiens

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Symbol:

HOXC13

Name:

homeobox C13

RGD ID:

1349214

HGNC Page

HGNC:5125

Description:

Enables DNA-binding transcription factor activity; DNA-binding transcription factor binding activity; and transcription cis-regulatory region binding activity. Involved in positive regulation of DNA-templated transcription. Predicted to be located in chromatin. Implicated in ectodermal dysplasia 9.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ECTD9; homeo box 3G; homeobox protein Hox-3G; homeobox protein Hox-C13; HOX3; HOX3G; NUP98/HOXC13

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):	Hoxc13 (homeobox C13)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Hoxc13 (homeobox C13)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Hoxc13 (homeobox C13)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HOXC13 (homeobox C13)	NCBI	Ortholog
Canis lupus familiaris (dog):	HOXC13 (homeobox C13)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hoxc13 (homeobox C13)	NCBI	Ortholog
Sus scrofa (pig):	HOXC13 (homeobox C13)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HOXC13 (homeobox C13)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hoxc13 (homeobox C13)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Hoxc13 (homeobox C13)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Hoxc13 (homeobox C13)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	hoxc13a (homeobox C13a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	hoxc13b (homeobox C13b)	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER\|PhylomeDB\|ZFIN)
Xenopus laevis (African clawed frog):	hoxc13.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	hoxc13	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	hoxc13.L	Alliance	DIOPT (Xenbase)

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	12	53,938,831 - 53,946,544 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	53,938,831 - 53,946,544 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	54,332,615 - 54,340,328 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	52,618,843 - 52,626,595 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	52,618,842 - 52,626,594	NCBI
Celera	12	53,982,194 - 53,989,933 (+)	NCBI		Celera
Cytogenetic Map	12	q13.13	NCBI
HuRef	12	51,370,279 - 51,377,685 (+)	NCBI		HuRef
CHM1_1	12	54,299,300 - 54,307,033 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	53,904,353 - 53,912,048 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

BILATERAL CLEFT LIP (ISO)

ectodermal dysplasia 9 (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-palmitoylglycerol (EXP)

actinomycin D (EXP)

afimoxifene (EXP)

aflatoxin B1 (EXP)

alpha-Zearalanol (ISO)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (EXP)

camptothecin (EXP)

CGP 52608 (EXP)

cisplatin (EXP)

copper atom (ISO)

copper(0) (ISO)

coumestrol (EXP)

dimethylselenide (EXP)

endosulfan (EXP)

hydroxyl (EXP)

indole-3-methanol (ISO)

nickel sulfate (EXP)

Nutlin-3 (EXP)

ozone (EXP)

paracetamol (EXP)

perfluorooctanoic acid (ISO)

sodium arsenite (EXP,ISO)

temozolomide (EXP)

thapsigargin (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

tunicamycin (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure morphogenesis (IEA,ISO,TAS)

anterior/posterior pattern specification (IEA,ISO)

hair follicle development (IEA,ISO)

nail development (IEA,ISO)

positive regulation of DNA-templated transcription (IDA,IGI)

positive regulation of transcription by RNA polymerase II (IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

tongue morphogenesis (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleus (IEA)

Molecular Function

chromatin binding (IEA)

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IEA)

DNA-binding transcription factor activity (IDA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA,ISA)

DNA-binding transcription factor binding (IPI)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

sequence-specific double-stranded DNA binding (IDA)

transcription cis-regulatory region binding (IMP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal sebaceous gland morphology (IAGP)

Abnormal sweat gland morphology (IAGP)

Abnormality of the dentition (IAGP)

Abnormality of the eye (IAGP)

Abnormality of the nervous system (IAGP)

Abnormality of the skeletal system (IAGP)

Absent eyebrow (IAGP)

Absent eyelashes (IAGP)

Absent hair (IAGP)

Atrichia (IAGP)

Autosomal recessive inheritance (IAGP)

Concave nail (IAGP)

Congenital onset (IAGP)

Ectodermal dysplasia (IAGP)

Inguinal hernia (IAGP)

Nail dystrophy (IAGP)

Onycholysis of fingernails (IAGP)

Small nail (IAGP)

Sparse hair (IAGP)

Unilateral cryptorchidism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1358459	PMID:1973146	PMID:2574852	PMID:2878432	PMID:8646877	PMID:9357979	PMID:10674376	PMID:10835276	PMID:11118201	PMID:11857506	PMID:12461755	PMID:12477932
PMID:14702039	PMID:15385554	PMID:15489334	PMID:15617687	PMID:17331444	PMID:18692240	PMID:19182517	PMID:19274049	PMID:19665070	PMID:20211142	PMID:20460270	PMID:20661663
PMID:20935629	PMID:21873635	PMID:22583695	PMID:23063621	PMID:23315978	PMID:23461661	PMID:23648065	PMID:24085196	PMID:25343990	PMID:25609649	PMID:25691658	PMID:26729820
PMID:27506447	PMID:28011715	PMID:28403827	PMID:28473536	PMID:28543635	PMID:29168599	PMID:29278420	PMID:29844126	PMID:30536950	PMID:31642514	PMID:32763778	PMID:33427025
PMID:34079125	PMID:34309767	PMID:34373451	PMID:34763232	PMID:36029503	PMID:36373674	PMID:36833285	PMID:37689310	PMID:37704626	PMID:38057852

Genomics

Comparative Map Data

HOXC13
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	53,938,831 - 53,946,544 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	53,938,831 - 53,946,544 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	54,332,615 - 54,340,328 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	52,618,843 - 52,626,595 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	52,618,842 - 52,626,594	NCBI
Celera	12	53,982,194 - 53,989,933 (+)	NCBI		Celera
Cytogenetic Map	12	q13.13	NCBI
HuRef	12	51,370,279 - 51,377,685 (+)	NCBI		HuRef
CHM1_1	12	54,299,300 - 54,307,033 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	53,904,353 - 53,912,048 (+)	NCBI		T2T-CHM13v2.0

Hoxc13
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	102,829,566 - 102,837,249 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	102,829,538 - 102,837,249 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	102,921,131 - 102,928,814 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	102,921,103 - 102,928,814 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	102,751,562 - 102,759,245 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	102,749,165 - 102,756,848 (+)	NCBI		MGSCv36	mm8
Celera	15	105,078,954 - 105,086,637 (+)	NCBI		Celera
Cytogenetic Map	15	F3	NCBI
cM Map	15	57.99	NCBI

Hoxc13
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	135,937,126 - 135,943,962 (+)	NCBI		GRCr8
mRatBN7.2	7	134,058,640 - 134,065,479 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	134,058,640 - 134,064,800 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	7	144,531,814 - 144,538,298 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	144,531,814 - 144,537,966 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	142,323,171 - 142,329,323 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	141,685,004 - 141,691,159 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	130,489,719 - 130,491,373 (+)	NCBI		Celera
Cytogenetic Map	7	q36	NCBI

Hoxc13
(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_004955458	1,197,295 - 1,205,127 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	1,197,295 - 1,205,098 (+)	NCBI	ChiLan1.0	ChiLan1.0

HOXC13
(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	10	40,239,252 - 40,246,959 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	40,236,020 - 40,243,727 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	34,808,575 - 34,816,324 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	35,596,821 - 35,604,560 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	35,596,821 - 35,604,560 (-)	Ensembl	panpan1.1		panPan2

HOXC13
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	1,315,532 - 1,323,470 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	1,273,131 - 1,323,370 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	44,926,178 - 44,934,051 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	1,319,256 - 1,327,126 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	1,319,221 - 1,327,051 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	1,336,900 - 1,344,764 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	1,318,461 - 1,326,337 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	45,329,789 - 45,337,670 (+)	NCBI		UU_Cfam_GSD_1.0

Hoxc13
(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_024404945	61,997,436 - 62,004,487 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936512	11,160,343 - 11,166,616 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HOXC13
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	19,151,084 - 19,158,646 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	19,151,096 - 19,159,008 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	19,624,272 - 19,632,185 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HOXC13
(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	11	50,039,034 - 50,057,178 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	50,049,509 - 50,055,895 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	195,985,021 - 195,992,836 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hoxc13
(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_004624904	1,993,854 - 2,000,500 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624904	1,993,854 - 2,001,623 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HOXC13
48 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_017410.3(HOXC13):c.355del (p.Leu119fs)	deletion	Ectodermal dysplasia 9, hair/nail type [RCV000043557]	Chr12:53939259 [GRCh38] Chr12:54333043 [GRCh37] Chr12:12q13.13	pathogenic
NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter)	single nucleotide variant	Ectodermal dysplasia 9, hair/nail type [RCV000033003]	Chr12:53939296 [GRCh38] Chr12:54333080 [GRCh37] Chr12:12q13.13	pathogenic
NM_017410.2(HOXC13):c.-24497_736+2389del	deletion	Ectodermal dysplasia 9, hair/nail type [RCV000033004]	Chr12:53914410..53942031 [GRCh38] Chr12:54308194..54335815 [GRCh37] Chr12:12q13.13	pathogenic
GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	copy number loss	See cases [RCV000052812]	Chr12:53224024..54222450 [GRCh38] Chr12:53617808..54616234 [GRCh37] Chr12:51904075..52902501 [NCBI36] Chr12:12q13.13	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3	copy number gain	See cases [RCV000141162]	Chr12:53841686..54136856 [GRCh38] Chr12:54235470..54530640 [GRCh37] Chr12:52521737..52816907 [NCBI36] Chr12:12q13.13	likely benign
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	copy number gain	See cases [RCV000141435]	Chr12:53420606..56202942 [GRCh38] Chr12:53814390..56596726 [GRCh37] Chr12:52100657..54882993 [NCBI36] Chr12:12q13.13-13.3	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NC_000012.11:g.26370251_54361538inv	inversion	not specified [RCV000714265]	Chr12:26370251..54361538 [GRCh37] Chr12:12p12.1-q13.13	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787381]	Chr12:53784698..54741363 [GRCh37] Chr12:12q13.13	pathogenic
NM_017410.3(HOXC13):c.786G>A (p.Lys262=)	single nucleotide variant	not provided [RCV000927255]	Chr12:53945049 [GRCh38] Chr12:54338833 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.*12C>A	single nucleotide variant	Ectodermal dysplasia 9, hair/nail type [RCV001702058]\|not provided [RCV004707689]	Chr12:53945268 [GRCh38] Chr12:54339052 [GRCh37] Chr12:12q13.13	benign
NM_017410.3(HOXC13):c.1A>G (p.Met1Val)	single nucleotide variant	Ectodermal dysplasia 9, hair/nail type [RCV001292889]	Chr12:53938907 [GRCh38] Chr12:54332691 [GRCh37] Chr12:12q13.13	pathogenic
NM_017410.3(HOXC13):c.260C>T (p.Ala87Val)	single nucleotide variant	not provided [RCV001761147]	Chr12:53939166 [GRCh38] Chr12:54332950 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.281C>A (p.Thr94Lys)	single nucleotide variant	not provided [RCV002117041]	Chr12:53939187 [GRCh38] Chr12:54332971 [GRCh37] Chr12:12q13.13	benign
NM_017410.3(HOXC13):c.61G>A (p.Asp21Asn)	single nucleotide variant	not provided [RCV002203182]	Chr12:53938967 [GRCh38] Chr12:54332751 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.861_862insACTTGCGGCTAGCAAGTTCATCACCAAA (p.Glu288delinsThrCysGlyTer)	insertion	not provided [RCV002275983]	Chr12:53945100..53945101 [GRCh38] Chr12:54338884..54338885 [GRCh37] Chr12:12q13.13	pathogenic
NM_017410.3(HOXC13):c.84CGG[6] (p.Gly38_Thr39insGly)	microsatellite	HOXC13-related disorder [RCV003926615]\|not provided [RCV002971615]	Chr12:53938989..53938990 [GRCh38] Chr12:54332773..54332774 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.408C>G (p.His136Gln)	single nucleotide variant	not specified [RCV004159718]	Chr12:53939314 [GRCh38] Chr12:54333098 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.112G>A (p.Gly38Ser)	single nucleotide variant	not provided [RCV002615238]	Chr12:53939018 [GRCh38] Chr12:54332802 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.601C>T (p.Pro201Ser)	single nucleotide variant	not specified [RCV004172323]	Chr12:53939507 [GRCh38] Chr12:54333291 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.335C>T (p.Pro112Leu)	single nucleotide variant	not specified [RCV004116359]	Chr12:53939241 [GRCh38] Chr12:54333025 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.844A>T (p.Ser282Cys)	single nucleotide variant	not specified [RCV004142967]	Chr12:53945107 [GRCh38] Chr12:54338891 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.45_47dup (p.Leu15_Met16insIle)	duplication	not provided [RCV002872300]	Chr12:53938949..53938950 [GRCh38] Chr12:54332733..54332734 [GRCh37] Chr12:12q13.13	benign
NM_017410.3(HOXC13):c.302C>T (p.Ala101Val)	single nucleotide variant	not specified [RCV004110275]	Chr12:53939208 [GRCh38] Chr12:54332992 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.329C>T (p.Ala110Val)	single nucleotide variant	not specified [RCV004122062]	Chr12:53939235 [GRCh38] Chr12:54333019 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.100G>A (p.Gly34Arg)	single nucleotide variant	not specified [RCV004132196]	Chr12:53939006 [GRCh38] Chr12:54332790 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.386A>G (p.Tyr129Cys)	single nucleotide variant	not specified [RCV004136412]	Chr12:53939292 [GRCh38] Chr12:54333076 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.829A>G (p.Lys277Glu)	single nucleotide variant	not specified [RCV004147123]	Chr12:53945092 [GRCh38] Chr12:54338876 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.952G>A (p.Val318Met)	single nucleotide variant	not specified [RCV004138040]	Chr12:53945215 [GRCh38] Chr12:54338999 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.936G>A (p.Arg312=)	single nucleotide variant	not provided [RCV002587104]	Chr12:53945199 [GRCh38] Chr12:54338983 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.272C>T (p.Ala91Val)	single nucleotide variant	not specified [RCV004279660]	Chr12:53939178 [GRCh38] Chr12:54332962 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.359G>T (p.Gly120Val)	single nucleotide variant	not specified [RCV004261441]	Chr12:53939265 [GRCh38] Chr12:54333049 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.53T>C (p.Val18Ala)	single nucleotide variant	not specified [RCV004260778]	Chr12:53938959 [GRCh38] Chr12:54332743 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.91G>A (p.Gly31Ser)	single nucleotide variant	not specified [RCV004248964]	Chr12:53938997 [GRCh38] Chr12:54332781 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.265C>G (p.Gln89Glu)	single nucleotide variant	not specified [RCV004257890]	Chr12:53939171 [GRCh38] Chr12:54332955 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.615C>G (p.His205Gln)	single nucleotide variant	not specified [RCV004270105]	Chr12:53939521 [GRCh38] Chr12:54333305 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)	single nucleotide variant	Ectodermal dysplasia 9, hair/nail type [RCV003135614]	Chr12:53939231 [GRCh38] Chr12:54333015 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.802A>C (p.Thr268Pro)	single nucleotide variant	not provided [RCV003229428]	Chr12:53945065 [GRCh38] Chr12:54338849 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.778G>A (p.Gly260Arg)	single nucleotide variant	not specified [RCV004316499]	Chr12:53945041 [GRCh38] Chr12:54338825 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.549G>C (p.Gln183His)	single nucleotide variant	not specified [RCV004335626]	Chr12:53939455 [GRCh38] Chr12:54333239 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.442C>T (p.His148Tyr)	single nucleotide variant	not specified [RCV004363098]	Chr12:53939348 [GRCh38] Chr12:54333132 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.985T>C (p.Ser329Pro)	single nucleotide variant	not specified [RCV004350495]	Chr12:53945248 [GRCh38] Chr12:54339032 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)	single nucleotide variant	Ectodermal dysplasia 9, hair/nail type [RCV003487090]	Chr12:53945195 [GRCh38] Chr12:54338979 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.639C>T (p.Gly213=)	single nucleotide variant	not provided [RCV003663573]	Chr12:53939545 [GRCh38] Chr12:54333329 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.131dup (p.Gly45fs)	duplication	not provided [RCV003561551]	Chr12:53939031..53939032 [GRCh38] Chr12:54332815..54332816 [GRCh37] Chr12:12q13.13	pathogenic
NM_017410.3(HOXC13):c.291G>A (p.Pro97=)	single nucleotide variant	not provided [RCV004585327]	Chr12:53939197 [GRCh38] Chr12:54332981 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.720G>C (p.Trp240Cys)	single nucleotide variant	Ectodermal dysplasia 9, hair/nail type [RCV003985249]	Chr12:53939626 [GRCh38] Chr12:54333410 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.736+7A>G	single nucleotide variant	HOXC13-related disorder [RCV003931731]	Chr12:53939649 [GRCh38] Chr12:54333433 [GRCh37] Chr12:12q13.13	likely benign
NM_017410.3(HOXC13):c.280A>G (p.Thr94Ala)	single nucleotide variant	HOXC13-related disorder [RCV003947270]	Chr12:53939186 [GRCh38] Chr12:54332970 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.370C>T (p.Pro124Ser)	single nucleotide variant	not specified [RCV004402057]	Chr12:53939276 [GRCh38] Chr12:54333060 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.508A>G (p.Lys170Glu)	single nucleotide variant	not specified [RCV004402060]	Chr12:53939414 [GRCh38] Chr12:54333198 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.527C>A (p.Pro176His)	single nucleotide variant	not specified [RCV004402061]	Chr12:53939433 [GRCh38] Chr12:54333217 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.631G>T (p.Val211Phe)	single nucleotide variant	not specified [RCV004402062]	Chr12:53939537 [GRCh38] Chr12:54333321 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.773G>C (p.Arg258Pro)	single nucleotide variant	not specified [RCV004402063]	Chr12:53945036 [GRCh38] Chr12:54338820 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.104G>A (p.Gly35Glu)	single nucleotide variant	not specified [RCV004402052]	Chr12:53939010 [GRCh38] Chr12:54332794 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.113G>A (p.Gly38Asp)	single nucleotide variant	not specified [RCV004402053]	Chr12:53939019 [GRCh38] Chr12:54332803 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.236G>C (p.Gly79Ala)	single nucleotide variant	not specified [RCV004402055]	Chr12:53939142 [GRCh38] Chr12:54332926 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.367T>C (p.Tyr123His)	single nucleotide variant	not specified [RCV004402056]	Chr12:53939273 [GRCh38] Chr12:54333057 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.457T>C (p.Tyr153His)	single nucleotide variant	not specified [RCV004402058]	Chr12:53939363 [GRCh38] Chr12:54333147 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.466C>A (p.Pro156Thr)	single nucleotide variant	not specified [RCV004402059]	Chr12:53939372 [GRCh38] Chr12:54333156 [GRCh37] Chr12:12q13.13	uncertain significance
NM_017410.3(HOXC13):c.127G>C (p.Gly43Arg)	single nucleotide variant	not specified [RCV004633025]	Chr12:53939033 [GRCh38] Chr12:54332817 [GRCh37] Chr12:12q13.13	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	692
Count of miRNA genes:	512
Interacting mature miRNAs:	563
Transcripts:	ENST00000243056
Prediction methods:	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
407246421	GWAS895397_H	acute myeloid leukemia QTL GWAS895397 (human)		0.000001	acute myeloid leukemia		12	53945830	53945831	Human

Markers in Region

STS-AA024448

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	54,340,085 - 54,340,282	UniSTS	GRCh37
Build 36	12	52,626,352 - 52,626,549	RGD	NCBI36
Celera	12	53,989,690 - 53,989,887	RGD
Cytogenetic Map	12	q13.3	UniSTS
HuRef	12	51,377,442 - 51,377,639	UniSTS
GeneMap99-GB4 RH Map	12	234.43	UniSTS
NCBI RH Map	12	423.0	UniSTS

RH122467

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	54,339,777 - 54,340,080	UniSTS	GRCh37
Build 36	12	52,626,044 - 52,626,347	RGD	NCBI36
Celera	12	53,989,382 - 53,989,685	RGD
Cytogenetic Map	12	q13.3	UniSTS
HuRef	12	51,377,134 - 51,377,437	UniSTS
TNG Radiation Hybrid Map	12	25102.0	UniSTS

SHGC-144808

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	54,337,393 - 54,337,677	UniSTS	GRCh37
Build 36	12	52,623,660 - 52,623,944	RGD	NCBI36
Celera	12	53,986,998 - 53,987,282	RGD
Cytogenetic Map	12	q13.3	UniSTS
HuRef	12	51,374,750 - 51,375,034	UniSTS
TNG Radiation Hybrid Map	12	25096.0	UniSTS

HOXC13_133

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	54,339,596 - 54,340,396	UniSTS	GRCh37
Build 36	12	52,625,863 - 52,626,663	RGD	NCBI36
Celera	12	53,989,201 - 53,990,001	RGD
HuRef	12	51,376,953 - 51,377,753	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	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
899	1019	2539	1277	2710	607	1103	3	228	589	120	2128	3675	3353	47	1609	575	1191	778	121

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_017410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA722686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC012531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF255676	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF263466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC090850	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT009908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU158600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OQ127240	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X99679	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000243056 ⟹ ENSP00000243056

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	53,938,831 - 53,946,544 (+)	Ensembl

RefSeq Acc Id:

NM_017410 ⟹ NP_059106

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,938,831 - 53,946,544 (+)	NCBI
GRCh37	12	54,332,576 - 54,340,328 (+)	ENTREZGENE
Build 36	12	52,618,843 - 52,626,595 (+)	NCBI Archive
HuRef	12	51,370,279 - 51,377,685 (+)	ENTREZGENE
CHM1_1	12	54,299,300 - 54,307,033 (+)	NCBI
T2T-CHM13v2.0	12	53,904,353 - 53,912,048 (+)	NCBI

Sequence:

show sequence

AAACAGGAGCGAGGTGTCTCCCTAGCTCGCTGCCTCTGGCAAGTGGAGTTTTTAAAAAGCTCCA
GCAGATCATGTCATGACGACTTCGCTGCTCCTGCATCCACGCTGGCCGGAGAGCCTTATGTACG
TCTATGAGGACAGCGCGGCGGAGAGCGGCATCGGCGGCGGCGGCGGAGGAGGAGGCGGCGGCAC
GGGCGGAGCGGGGGGTGGCTGCAGCGGAGCGAGCCCCGGCAAAGCCCCGAGCATGGATGGTCTG
GGCAGCAGCTGCCCGGCCAGCCACTGCCGCGACCTGCTTCCGCACCCCGTGCTGGGCCGCCCGC
CGGCTCCCCTGGGCGCCCCTCAGGGCGCCGTCTATACGGACATCCCGGCCCCGGAGGCGGCGCG
CCAGTGTGCCCCGCCGCCCGCACCCCCCACCTCGTCCAGCGCCACCCTGGGCTACGGCTACCCC
TTCGGGGGCAGCTACTACGGCTGCCGCCTGTCGCACAACGTGAACCTGCAGCAGAAGCCTTGCG
CCTACCACCCGGGCGATAAATACCCGGAGCCGTCGGGCGCCCTGCCCGGTGACGACCTGTCCTC
TAGGGCCAAGGAGTTCGCCTTCTACCCCAGCTTCGCCAGCTCCTACCAGGCGATGCCCGGCTAC
CTGGACGTGTCGGTGGTGCCCGGGATCAGCGGGCACCCGGAGCCGCGTCACGACGCCCTCATCC
CCGTCGAAGGCTACCAGCACTGGGCTCTCTCCAATGGCTGGGACAGTCAGGTGTACTGCTCCAA
GGAGCAGTCGCAGTCCGCCCACCTCTGGAAGTCTCCCTTCCCAGACGTGGTTCCCCTGCAGCCC
GAGGTGAGCAGCTACCGGCGCGGGCGCAAGAAACGCGTGCCCTACACTAAGGTGCAGCTGAAGG
AGCTAGAGAAGGAATACGCGGCTAGCAAGTTCATCACCAAAGAGAAGCGCCGGCGCATCTCCGC
CACCACGAACCTCTCTGAGCGCCAGGTAACCATCTGGTTCCAGAACCGGCGGGTCAAAGAGAAG
AAGGTGGTCAGCAAATCGAAAGCGCCTCATCTCCACTCCACCTGACCACCCACCCGCTGCTTGC
CCCATCTATTTATGTCTCCGCTTTGTACCATAACCGAACCCACGGAAAGACGCTGCGCGGGTGC
AGAAGAGTATTTAATGTTAAGGAAAGAGAAGAACCGCGCCGCCCGGAGGCAGAGAGGCTCCATG
GCCGTGCTGCTGGGCCATCCCCAACTCCCTATCCCATCCCCAGCCTCCACCCCCATCCAGATGG
GACTCACGTGGCTTCAACAGCTTTGGAAATGGGTCCCGAGTGGGCCGTGCGAGGAAGGCTGTCG
ACCTCTACTCCTCCTTGCGCTCACCTTGCCAGAAAGTCTGGTGGCAGCGCAGAGCCCAATCATT
CCAACCAAAGCAGGGTTGGGGAATCCCGAATGGCCCCAATTCTTGCCTCATCCTATGACCAGGC
TTTTAGAGGACCTTCCCTAAGGGCGCAGCTTCGGAGCAGGATCTGTCCAGCTCATACTTTCCTT
CGCTGTCCCTCCCGCACTCCTTAGGCAAGATTTCCCAGTAAAGATTTTCTGTGCGTATTTTAAA
AGTCGTGTTAATACTCATGATAATTATTAGGGACCTGGCAGCGTGATTGGAGTATGGATGTTTC
CGTAAAAGCTGGAATTCCGTAAAAGCATTGACGCAGCCCCTACACTCCATCCCAACCAAGAAAC
TGCATTTCCTGGGGCCAGGTGGGAGCTGCCTTTGCCCCACTGCCTCCCCTGTTCTGCTCTCTCA
GTCAACATGTGGAAATCCAAGGAGGACAAAGACTCCAGCCACGCTGCTAAATAGGGCTCCTCTC
TCCTCTCTCTCTCTCTAGGTGGTAAGGTTGGGGATTAGTCCAGGTACAGAAGCAGAACTTTTTT
CTAAGGATAAACATCTCTTCCAAGGGGATGGAGAGTGGGTCCCTCAACAAAGTCCCTGTCCAGT
CACCTTTCCATCAGGGCACTAGCCCAGGAATGACTCCTCACACTTTCACCTTTACTGATTTCCA
GAGGAAAGCTAGAGGATCTAGTTCAAGAGGCAAGAAGATCTGGCCCTCAATTAGCTAGATGTAG
ATGCTGCCTAACAGTTCCCTCCTCAAAGGCCACCTTGGTGCTGTGGGGGCCCCTTGCCTCTTCC
CTTCCCACTGGTGCATTACAAAACAGTGTTCTTTTGAAATGTTCATCAGGAATAGGCTTTTTTA
AAAAATGTTGTGTATCTGTATATAGTATTGTGATGTCTGAATGACAATGTACTGAATGCAAAAA
GGAAAAAAACCCACAAACATGTTTTTAAAATAAAATATCTTTTTTTGCCTTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_059106	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF67760	(Get FASTA)	NCBI Sequence Viewer
	AAF73439	(Get FASTA)	NCBI Sequence Viewer
	AAH90850	(Get FASTA)	NCBI Sequence Viewer
	AAP88910	(Get FASTA)	NCBI Sequence Viewer
	BAB14786	(Get FASTA)	NCBI Sequence Viewer
	CAA67995	(Get FASTA)	NCBI Sequence Viewer
	EAW96734	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000243056
	ENSP00000243056.3
GenBank Protein	P31276	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_059106 ⟸ NM_017410

- UniProtKB:

Q9NR24 (UniProtKB/Swiss-Prot), Q96J32 (UniProtKB/Swiss-Prot), Q5BL02 (UniProtKB/Swiss-Prot), Q9NYD5 (UniProtKB/Swiss-Prot), P31276 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTTSLLLHPRWPESLMYVYEDSAAESGIGGGGGGGGGGTGGAGGGCSGASPGKAPSMDGLGSSC
PASHCRDLLPHPVLGRPPAPLGAPQGAVYTDIPAPEAARQCAPPPAPPTSSSATLGYGYPFGGS
YYGCRLSHNVNLQQKPCAYHPGDKYPEPSGALPGDDLSSRAKEFAFYPSFASSYQAMPGYLDVS
VVPGISGHPEPRHDALIPVEGYQHWALSNGWDSQVYCSKEQSQSAHLWKSPFPDVVPLQPEVSS
YRRGRKKRVPYTKVQLKELEKEYAASKFITKEKRRRISATTNLSERQVTIWFQNRRVKEKKVVS
KSKAPHLHST

hide sequence

Ensembl Acc Id:

ENSP00000243056 ⟸ ENST00000243056

Protein Domains

Homeobox

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P31276-F1-model_v2	AlphaFold	P31276	1-330	view protein structure

Promoters

RGD ID:

6790112

Promoter ID:

HG_KWN:15776

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3

Transcripts:

NM_017410

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	52,618,906 - 52,619,582 (+)	MPROMDB

RGD ID:

7224161

Promoter ID:

EPDNEW_H17826

Type:

initiation region

Name:

HOXC13_1

Description:

homeobox C13

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,938,846 - 53,938,906	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:5125	AgrOrtholog
COSMIC	HOXC13	COSMIC
Ensembl Genes	ENSG00000123364	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000243056	ENTREZGENE
	ENST00000243056.5	UniProtKB/Swiss-Prot
Gene3D-CATH	Homeodomain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000123364	GTEx
HGNC ID	HGNC:5125	ENTREZGENE
Human Proteome Map	HOXC13	Human Proteome Map
InterPro	AP_axis_regulatory_Homeobox	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Homeobox-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Homeobox_CS	UniProtKB/Swiss-Prot
	Homeobox_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HoxA13_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:3229	UniProtKB/Swiss-Prot
NCBI Gene	3229	ENTREZGENE
OMIM	142976	OMIM
PANTHER	HOMEOBOX PROTEIN HOX-C13	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SEGMENTATION PROTEIN FUSHI TARAZU-LIKE PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Homeodomain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HoxA13_N	UniProtKB/Swiss-Prot
PharmGKB	PA29400	PharmGKB
PROSITE	HOMEOBOX_1	UniProtKB/Swiss-Prot
	HOMEOBOX_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46689	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	HXC13_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5BL02	ENTREZGENE
	Q6LAM3_HUMAN	UniProtKB/TrEMBL
	Q96J32	ENTREZGENE
	Q9NR24	ENTREZGENE
	Q9NYD5	ENTREZGENE
UniProt Secondary	Q5BL02	UniProtKB/Swiss-Prot
	Q96J32	UniProtKB/Swiss-Prot
	Q9NR24	UniProtKB/Swiss-Prot
	Q9NYD5	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIA

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIA

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO