1. Gene
  2. RAB4A - RAB4A, member RAS oncogene family Gene

RAB4A - RAB4A, member RAS oncogene family Gene

Homo sapiens

Also known as RAB4; HRES1; HRES-1; HRES-1/RAB4

Gene ID: 5867 | Gene type: protein coding

About RAB4A

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,271,111-229,305,894 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues and 68 paralogues. Ubiquitous expression in prostate (RPKM 22.3), heart (RPKM 17.5) and 25 other tissues.

Summary

This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

RAB4A Products(2)

mRNA Protein Name
NM_001271998.2 NP_001258927.1 ras-related protein Rab-4A isoform 2
NM_004578.4 NP_004569.2 ras-related protein Rab-4A isoform 1
Protein Preferred Names Protein Names

ras-related protein Rab-4A

HTLV-1 related endogenous sequence

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Diffuse Infiltrative Lymphocytosis Syndrome
Charcot-Marie-Tooth Disease, Type 4d

Charcot-Marie-Tooth Disease Type 4d

CMT4D

Hmsnl

Hmsn4d

Charcot-Marie-Tooth Neuropathy Type 4d

Hereditary Motor And Sensory Neuropathy Lom Type

Hmsn-Lom

Neuropathy, Hereditary Motor And Sensory, Lom Type

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

Charcot-Marie-Tooth Neuropathy, Type 4d

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

Hmsn Lom Type

Hmsn, Lom Type

Hereditary Motor And Sensory Neuropathy, Lom Type

Charcot-Marie-Tooth Disease 4d

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

Hereditary Motor And Sensory Neuropathy Ivd

Hmsn Ivd

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b

CMT2B

Hmsn Iib

Hmsn2b

Charcot-Marie-Tooth Disease, Type 2b

Hereditary Motor And Sensory Neuropathy Iib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

Charcot-Marie-Tooth Neuropathy Type 2b

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

Charcot-Marie-Tooth Neuropathy, Type 2b

Hereditary Motor And Sensory Nueropathy Iib

Cmt 2b

Charcot Marie Tooth Disease Type 2b

Charcot-Marie-Tooth Disease, Neuronal, Type 2b

Hereditary Motor And Sensory Neuropathy 2 B

Peripheral Sensory Neuropathy, Autosomal Dominant

Charcot-Marie-Tooth Disease 2b

Charcot-Marie-Tooth Disease Axonal Type 2b

Charcot-Marie-Tooth Disease Neuronal Type 2b

Peripheral Sensory Neuropathy Autosomal Dominant

Psn

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

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 RAB4A VGNC VGNC:81545
Rattus norvegicus RAB4A RGD RGD:3529
Canis familiaris RAB4A VGNC VGNC:45290
Mus musculus RAB4A MGD MGI:105069
Bos taurus RAB4A VGNC VGNC:33657