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  2. HOXC13 - homeobox C13 Gene

HOXC13 - homeobox C13 Gene

中文名称:同源框 C13

种属: Homo sapiens

同用名: HOX3; ECTD9; HOX3G

基因 ID: 3229 | 基因类型: protein coding

关于 HOXC13

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,938,831-53,946,544 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues, 42 paralogues and is associated with 50 phenotypes. Biased expression in skin (RPKM 1.8), testis (RPKM 0.2) and 1 other tissue.

功能概要

该基因属于同源盒基因家族。同源框基因编码一个高度保守的转录因子家族,在所有多细胞生物的形态发生中起着重要作用。哺乳动物拥有 4 个相似的同源盒基因簇 HOXA、HOXB、HOXC 和 HOXD,它们分别位于不同的染色体上,由 9~11 个串联排列的基因组成。该基因是位于 12 号染色体簇中的几个同源框 HOXC 基因之一。该基因的产物可能在毛发、指甲和丝状乳头的发育中发挥作用。[RefSeq 提供,2008 年 7 月]

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]

HOXC13 基因产物(1)

mRNA Protein Name
NM_017410.3 NP_059106.2 homeobox protein Hox-C13

HOXC13 蛋白结构

HoxA13_N

HoxA13_N: Hox protein A13 N terminal (56 - 168)

Homeobox

Homeobox: Homeobox domain (261 - 317)

  • 0
  • 100
  • 200
  • 300
  • 330 a.a.
蛋白主名 其他名称

homeobox protein Hox-C13

NUP98/HOXC13

HOXC13 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HOXC13 P31276 NFATC1 Homo sapiens O95644
TAP
25609649
种属内
HOXC13 P31276 ELF1 Homo sapiens P32519 18692240
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ectodermal Dysplasia 9, Hair/Nail Type

ECTD9

Ectodermal Dysplasia 9

Dysplasia, Ectodermal, Type 9, Hair/Nail

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia

ECTD4

Ectodermal Dysplasia, Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair/Nail Type

Hned

Hair-Nail Ectodermal Dysplasia

Phned

Ectodermal Dysplasia Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair-Nail Type

Dysplasia, Ectodermal, Type 4, Hair/Nail

Lacrimal Duct Obstruction

Blocked Lacrimal Canaliculus

Obstruction Of Lacrimal Canaliculus

Obstruction Of Lacrimal Ducts

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Ectodermal Dysplasia 5, Hair/Nail Type

ECTD5

Ectodermal Dysplasia 5

Ectodermal Dysplasia 6, Hair/Nail Type

ECTD6

Ectodermal Dysplasia 6

Ectodermal Dysplasia 7, Hair/Nail Type

ECTD7

Ectodermal Dysplasia 7

Dysplasia, Ectodermal, Type 7, Hair/Nail

Hypotrichosis
Skin Pilomatrix Carcinoma

Pilomatrix Carcinoma Of Skin

Malignant Pilomatricoma

Pilomatricoma, Malignant

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome

Hfgs

Hfg Syndrome

Hfu Syndrome

HFG

Hfu

Hand Foot Uterus Syndrome

Hand Foot Genital Syndrome

T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

Winged Helix Deficiency

Alymphoid Cystic Thymic Dysgenesis

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome

Pignata Guarino Syndrome

TIDAND

T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy

Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency

Severe Combined Immunodeficiency Due To Foxn1 Deficiency

Foxn1 Deficiency

Nude/Scid

Nude/Severe Combined Immunodeficiency

Scid Due To Foxn1 Deficiency

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy

Hair Follicle Neoplasm

Hair Matrix Neoplasm

Hair Matrix Tumour

Vertical Talus, Congenital

Congenital Vertical Talus

CVT

Congenital Convex Pes Valgus

Rocker-Bottom Foot Deformity

Vertical Talus

Pes Valgus, Congenital Convex

Congenital Convex Foot

Congenital Rocker-Bottom Foot

Rocker Bottom Foot

Flatfoot

Rocker-Bottom Foot

Charcot-Marie-Tooth Disease, Foot Deformity Of

Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4

Pilomatrixoma

Pilomatricoma

PTR

Epithelioma Calcificans Of Malherbe

Benign Pilomatricoma

Calcifying Epithelioma Of Malherbe

Pilomatricoma, Somatic

Benign Pilomatrixoma

Malherbe Calcifying Epithelioma

Monilethrix

Beaded Hair

MNLIX

Nodose Hair

Moniliform Hair Syndrome

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus HOXC13 MGD MGI:99560
Rattus norvegicus HOXC13 RGD RGD:1563984
Canis familiaris HOXC13 VGNC VGNC:41758
Macaca mulatta HOXC13 VGNC VGNC:108348
Bos taurus HOXC13 VGNC VGNC:29924