1. Gene
  2. SLC7A4 - solute carrier family 7 member 4 Gene

SLC7A4 - solute carrier family 7 member 4 Gene

Homo sapiens

Also known as VH; CAT4; CAT-4; HCAT3

Gene ID: 6545 | Gene type: protein coding

About SLC7A4

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:21,028,718-21,032,561 (from NCBI)

This gene has 3 transcripts (splice variants), 265 orthologues and 12 paralogues. Biased expression in testis (RPKM 11.6), esophagus (RPKM 3.0) and 12 other tissues.

Summary

Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A4 Products(1)

mRNA Protein Name
NM_004173.3 NP_004164.2 cationic amino acid transporter 4

SLC7A4 Protein Structure

AA_permease_2

AA_permease_2: Amino acid permease (37 - 419)

AA_permease_C

AA_permease_C: C-terminus of AA_permease (540 - 590)

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  • 635 a.a.
Protein Preferred Names Protein Names

cationic amino acid transporter 4

Ig heavy chain variable region

Related Diseases

Diseases Alias
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Rubeosis Iridis
Breast Apocrine Carcinoma

Apocrine Carcinoma Of Breast

Apocrine Breast Carcinoma

Chromophobe Adenoma

Adenoma, Chromophobe

Chromophobe Adenoma Of The Pituitary Gland

Adenoma Chromophobe

Heparin Cofactor Ii Deficiency

Thrombophilia Due To Heparin Cofactor Ii Deficiency

THPH10

Hcf Ii Deficiency

Hcf2 Deficiency

Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency

Hcf 2 Deficiency

Thrombophilia Due To Heparin Cofactor 2 Deficiency

Thrombophilia, Due To Heparin Cofactor Ii Deficiency

Vestibular Nystagmus

Nystagmus Associated With Disorder Of The Vestibular System

Spondylolysis

Acquired Spondylolysis

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
Macaca mulatta SLC7A4 VGNC VGNC:108056
Felis catus SLC7A4 VGNC VGNC:65426
Rattus norvegicus SLC7A4 RGD RGD:1305905
Bos taurus SLC7A4 VGNC VGNC:34930
Mus musculus SLC7A4 MGD MGI:2146512
Canis familiaris SLC7A4 VGNC VGNC:46475