2. Gene
  3. FAM172A - family with sequence similarity 172 member A Gene

FAM172A - family with sequence similarity 172 member A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：具有序列相似性的家族 172 成员 A

种属: Homo sapiens

同用名: Toupee; C5orf21

基因 ID: 83989 | 基因类型: protein coding

关于 FAM172A

This gene has 9 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 1.6) and 25 other tissues.

功能概要

预测有助于 siRNA 结合活性。预测由小 RNA 参与异染色质组装；神经嵴细胞发育；和通过剪接体调节可变 mRNA 剪接。位于内质网。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to contribute to siRNA binding activity. Predicted to be involved in heterochromatin assembly by small RNA; neural crest cell development; and regulation of alternative mRNA splicing, via spliceosome. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

FAM172A 基因产物(3)

mRNA Protein Name
NM_001163417.1 NP_001156889.1 cotranscriptional regulator FAM172A isoform 2
NM_001163418.1 NP_001156890.1 cotranscriptional regulator FAM172A isoform 3
NM_032042.6 NP_114431.2 cotranscriptional regulator FAM172A isoform 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

FAM172A 蛋白结构

Arb2

Arb2: Arb2 domain (79 - 222)

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

cotranscriptional regulator FAM172A

protein FAM172A

FAM172A 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
ARB2A Q8WUF8 MESD Homo sapiens Q14696
Y2H Prey Pooling
32296183
种属内
ARB2A Q8WUF8 MESD Homo sapiens Q14696
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 FAM172A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70882 FAM172A Protein, Human (HEK293, His) Q8WUF8-1 (Q19-L416) ≥95%

关联疾病

疾病名称 别名
Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome
Cardiofaciocutaneous Syndrome 3

CFC3

Cardiofaciocutaneous Syndrome, Type 3
Bardet-Biedl Syndrome 7

BBS7

Bardet-Biedl Syndrome, Type 7
Cardiofaciocutaneous Syndrome 2

CFC2

Cardiofaciocutaneous Syndrome, Type 2
Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Acrofacial Dysostosis 1, Nager Type

Nager Syndrome

Nager Acrofacial Dysostosis

AFD1

Preaxial Acrofacial Dysostosis

Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies

Afd, Nager Type

Nager Acrofacial Dysostosis Syndrome

Nafd

Acrofacial Dysostosis, Nager Type

Afd

Preaxial Manibulofacial Dysostosis

Split Hand Deformity-Mandibulofacial Dysostosis

Preaxial Mandibulofacial Dysostosis

Mandibulofacial Dysostosis With Preaxial Limb Anomalies

Preaxial Acrodysostosis

Afd Nager Type

Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04696 FAM172A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris FAM172A VGNC VGNC:40625
Macaca mulatta FAM172A VGNC VGNC:72348
Mus musculus FAM172A MGD MGI:1915925
Rattus norvegicus FAM172A RGD RGD:1305526
Bos taurus FAM172A VGNC VGNC:106731
Felis catus FAM172A VGNC VGNC:62082
Others FAM172A NCBI
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