1. Gene
  2. YIPF5 - Yip1 domain family member 5 Gene

YIPF5 - Yip1 domain family member 5 Gene

Homo sapiens

Also known as MEDS2; SB140; SMAP5; YIP1A; SMAP-5; FinGER5

Gene ID: 81555 | Gene type: protein coding

About YIPF5

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:144,158,162-144,170,659 (from NCBI)

This gene has 6 transcripts (splice variants), 214 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues.

Summary

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; regulation of ER to Golgi vesicle-mediated transport; and vesicle fusion with Golgi apparatus. Located in Golgi apparatus; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

YIPF5 Products(3)

mRNA Protein Name
NM_001024947.4 NP_001020118.1 protein YIPF5 isoform a
NM_001271732.2 NP_001258661.1 protein YIPF5 isoform b
NM_030799.9 NP_110426.4 protein YIPF5 isoform a

YIPF5 Protein Structure

Yip1

Yip1: Yip1 domain (97 - 228)

  • 0
  • 100
  • 200
  • 257 a.a.
Protein Preferred Names Protein Names

protein YIPF5

YIP1 family member 5

Related Diseases

Diseases Alias
Microcephaly, Epilepsy, And Diabetes Syndrome 2

MEDS2

Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome
Spontaneous Ocular Nystagmus

Visual Deprivation Nystagmus

Ocular Nystagmus

Searching Eye Movements

Nystagmus, Pathologic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Permanent Neonatal Diabetes Mellitus

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent

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 YIPF5 VGNC VGNC:79461
Felis catus YIPF5 VGNC VGNC:67143
Canis familiaris YIPF5 VGNC VGNC:48491
Rattus norvegicus YIPF5 RGD RGD:1359165
Bos taurus YIPF5 VGNC VGNC:37027
Mus musculus YIPF5 MGD MGI:1914430