SPATA31C2 SPATA31 subfamily C member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPATA31C2provided by HGNC
Official Full Name: SPATA31 subfamily C member 2provided by HGNC
Primary source: HGNC:HGNC:24508
See related: Ensembl:ENSG00000177910 AllianceGenome:HGNC:24508
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FAM75C2
Summary: Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 8.9) See more
Orthologs: all
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Genomic context

Location:: 9q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (88129305..88138475, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (100283388..100292558, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (90744220..90753390, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: putative spermatogenesis-associated protein 31C2

Names: family with sequence similarity 75, member C2; spermatogenesis-associated protein 31C2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001166137.1 → NP_001159609.1 putative spermatogenesis-associated protein 31C2 isoform 2

See identical proteins and their annotated locations for NP_001159609.1

Status: VALIDATED

Source sequence(s)

AK302448, AL080179, AL353726, DB061043

Consensus CDS

CCDS94435.1

UniProtKB/Swiss-Prot

B4DYI2

Related

ENSP00000509164.1, ENST00000675441.1

Conserved Domains (2) summary

pfam14650
Location:311 → 600

FAM75; FAM75 family

pfam15371
Location:82 → 161

DUF4599; Domain of unknown function (DUF4599)
NM_001350978.3 → NP_001337907.1 putative spermatogenesis-associated protein 31C2 isoform 1

Status: VALIDATED

Source sequence(s)

AL080179, AL353726, DB076576

Consensus CDS

CCDS94436.1

UniProtKB/TrEMBL

A0A8I5KWQ5

Related

ENSP00000509734.1, ENST00000324915.6

Conserved Domains (3) summary

pfam14650
Location:311 → 600

FAM75; FAM75 family

pfam15371
Location:83 → 163

DUF4599; Domain of unknown function (DUF4599)

cl26464
Location:122 → 365

Atrophin-1; Atrophin-1 family