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

Homo sapiens
Gene ID: 80115 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_025045.6 NP_079321.3 brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2

BAIAP2L2 Protein Structure

IMD

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

SH3_9

SH3_9: Variant SH3 domain (339 - 383)

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  • 529 a.a.
Protein Preferred Names Protein Names

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

BAI1 associated protein 2 like 2

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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