1. Gene
  2. BAIAP2L2 - BAR/IMD domain containing adaptor protein 2 like 2 Gene

BAIAP2L2 - BAR/IMD domain containing adaptor protein 2 like 2 Gene

中文名称:含 BAR/IMD 结构域衔接蛋白 2 样 2

种属: Homo sapiens

基因 ID: 80115 | 基因类型: protein coding

关于 BAIAP2L2

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,084,900-38,110,967 (from NCBI)

This gene has 7 transcripts (splice variants), 233 orthologues and 2 paralogues. Biased expression in duodenum (RPKM 28.1), small intestine (RPKM 24.8) and 4 other tissues.

功能概要

由该基因编码的蛋白质结合磷酸肌醇并促进平面或弯曲膜结构的形成。编码的蛋白质存在于 RAB13 阳性囊泡和与质膜的细胞间接触处。[RefSeq 提供,2012 年 12 月]

The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

BAIAP2L2 基因产物(1)

mRNA Protein Name
NM_025045.6 NP_079321.3 brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell contact zone IDA
IDA: 通过直接分析推断
21743456 GOA
part of clathrin complex IDA
IDA: 通过直接分析推断
21401524 GOA
located in vesicle membrane IDA
IDA: 通过直接分析推断
21743456 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

BAIAP2L2 蛋白结构

IMD

IMD: IRSp53/MIM homology domain (16 - 226)

SH3_9

SH3_9: Variant SH3 domain (339 - 383)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 529 a.a.
蛋白主名 其他名称

brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2

BAI1 associated protein 2 like 2

关联疾病

疾病名称 别名
Autosomal Dominant Nonsyndromic Deafness 78

Dfna78

Deafness, Autosomal Recessive 28

DFNB28

Autosomal Recessive Nonsyndromic Deafness 28

Autosomal Recessive Deafness 28

Deafness, Autosomal Recessive, 28

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28

Deafness, Autosomal Recessive, Type 28

Branchiootorenal Syndrome 1

Melnick-Fraser Syndrome

BOR1

Branchiootorenal Dysplasia

Branchiootorenal Syndrome 1, With Or Without Cataracts

Bor Syndrome 1

Branchiootorenal Dysplasia 1

Branchio-Oto-Renal Dysplasia 1

Branchio-Oto-Renal Syndrome Type 1

Branchiootorenal Syndrome, With/Without Cataract, Type 1

Branchio-Oto-Renal 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 BAIAP2L2 MGD MGI:2652819
Bos taurus BAIAP2L2 VGNC VGNC:26414
Felis catus BAIAP2L2 VGNC VGNC:60072
Canis familiaris BAIAP2L2 VGNC VGNC:38373
Rattus norvegicus BAIAP2L2 RGD RGD:1595091
Macaca mulatta BAIAP2L2 VGNC VGNC:70133