1. Gene
  2. VCX3A - variable charge X-linked 3A Gene

VCX3A - variable charge X-linked 3A Gene

中文名称:可变电荷 X 连锁 3A

种属: Homo sapiens

同用名: VCX3; VCXA; VCX-A; VCX8R; VCX-8r

基因 ID: 51481 | 基因类型: protein coding

关于 VCX3A

Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:6,533,618-6,535,118 (from NCBI)

This gene has 2 transcripts (splice variants), 34 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 27.7).

功能概要

该基因属于 VCX/Y 基因家族,在 X 染色体和 Y 染色体上均有多个成员,全部只在雄性生殖细胞中表达。 X 连锁成员聚集在染色体 Xp22 上,Y 连锁成员是 Yq11 回文区域内该基因的两个相同拷贝。家族成员具有高度的序列同一性,除了一个 30 bp 单元在 X 连锁成员中串联重复但在 Y 连锁成员中仅出现一次。 VCX 基因簇在拷贝数方面具有多态性;不同的个体可能有不同数量的 VCX 基因。 VCX/Y 基因编码功能未知的小而高电荷的蛋白质。推定的二分核定位信号的存在表明 VCX/Y 成员是核蛋白。该基因包含 8 个重复的 30-bp 单元。[RefSeq 提供,2008 年 7 月]

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

VCX3A 基因产物(1)

mRNA Protein Name
NM_016379.4 NP_057463.2 variable charge X-linked protein 3
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
10903929 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

VCX3A 蛋白结构

VCX_VCY

VCX_VCY: Variable charge X/Y family (1 - 142)

VCX_VCY

VCX_VCY: Variable charge X/Y family (142 - 182)

  • 0
  • 100
  • 186 a.a.
蛋白主名 其他名称

variable charge X-linked protein 3

variable charge protein on X with eight repeats

关联疾病

疾病名称 别名
Ichthyosis, X-Linked

X-Linked Ichthyosis

Steroid Sulfatase Deficiency

Placental Steroid Sulfatase Deficiency

Steroid Sulfatase Deficiency Disease

XLI

Sts Deficiency

Ssdd

X-Linked Recessive Ichthyosis

X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

X-Linked Placental Steryl-Sulphatase Deficiency

Ssd

X Linked Ichthyosis

Recessive X-Linked Ichthyosis

Rxli

Syndromic Recessive X-Linked Ichthyosis

Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

Syndromic Rxli

X-Linked Ichthyosis Syndrome

IXL

Ichthyosis X-Linked

Sex-Linked Ichthyosis

X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49

Orbital Cyst
Opitz-Kaveggia Syndrome

Fg Syndrome

Fgs1

Fgs

Keller Syndrome

OKS

Fg Syndrome 1

Fg Syndrome Type 1

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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