1. Gene
  2. STAG3 - stromal antigen 3 Gene

STAG3 - stromal antigen 3 Gene

中文名称:基质抗原 3

种属: Homo sapiens

同用名: SPGF61

基因 ID: 10734 | 基因类型: protein coding

关于 STAG3

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,177,724-100,219,334 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 44.6), brain (RPKM 6.1) and 2 other tissues.

功能概要

由该基因编码的蛋白质在细胞核中表达,是黏附蛋白复合物的一个亚基,在细胞分裂过程中调节姐妹染色单体的凝聚。该基因的突变与卵巢早衰有关。交替剪接导致编码不同异构体的多个转录变体。这个基因有多个假基因。[RefSeq 提供,2014 年 4 月]

The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]

STAG3 基因产物(5)

mRNA Protein Name
NM_001282716.1 NP_001269645.1 cohesin subunit SA-3 isoform 1
NM_001282717.2 NP_001269646.1 cohesin subunit SA-3 isoform 2
NM_001282718.2 NP_001269647.1 cohesin subunit SA-3 isoform 3
NM_001375438.1 NP_001362367.1 cohesin subunit SA-3 isoform 2
NM_012447.4 NP_036579.2 cohesin subunit SA-3 isoform 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in establishment of meiotic sister chromatid cohesion IMP
IMP: 通过突变表型推断
31682730 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of meiotic cohesin complex IDA
IDA: 通过直接分析推断
21242291 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

STAG3 蛋白结构

STAG

STAG: STAG domain (170 - 289)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1225 a.a.
蛋白主名 其他名称

cohesin subunit SA-3

SCC3 homolog 3

关联疾病

疾病名称 别名
Premature Ovarian Failure 8

POF8

Ovarian Failure, Premature, Type 8

Spermatogenic Failure 61

SPGF61

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Infertility
46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

Amenorrhea

Absence Of Menstruation

Amenia

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Orofacial Cleft 8

OFC8

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8

Non-Syndromic Cleft Lip/Palate 8

Non-Syndromic Cleft Lip With Or Without Cleft Palate 8

Orofacial Cleft, Type 8

Bardet-Biedl Syndrome 12

BBS12

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 12

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

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
Rattus norvegicus STAG3 RGD RGD:621333
Canis familiaris STAG3 VGNC VGNC:54072
Macaca mulatta STAG3 VGNC VGNC:81766
Mus musculus STAG3 MGD MGI:1355311
Felis catus STAG3 VGNC VGNC:80685
Bos taurus STAG3 VGNC VGNC:97313